| term overlap setsize score pval |
| Abnormality of acid base homeostasis 165 311 2.821544693779649 5.752604634156479e-19 |
| Decreased head circumference 426 1052 1.744506062318996 2.055276339040903e-16 |
| Increased serum lactate 102 173 3.5458160729080364 3.1890752163588033e-16 |
| Abnormality of the mitochondrion 94 162 3.4038890918686318 1.886184261779577e-14 |
| Generalized hypotonia 331 808 1.7542285217722882 1.3029735072425021e-13 |
| Hypertonia 351 868 1.7190143233067012 1.8098802685882253e-13 |
| Abnormal cns myelination 133 265 2.4923314996767254 4.30223321221604e-13 |
| Abnormal myelination 204 456 2.0185830429732867 7.55030705187756e-13 |
| Abnormal enzyme coenzyme activity 174 375 2.151276972130123 8.84623506301398e-13 |
| Abnormal circulating metabolite concentration 328 813 1.7056995139469366 1.7910325606294924e-12 |
| Onset 370 949 1.6146424106372412 1.40589674064161e-11 |
| Spasticity 291 718 1.7099287539440244 2.0283216805060425e-11 |
| Lactic acidosis 85 156 2.9375669219998355 3.49022181141257e-11 |
| Lipid accumulation in hepatocytes 66 111 3.588471177944862 3.355897503184132e-11 |
| Abnormal circulating carbohydrate concentration 41 57 6.241697729583192 3.4020675381206455e-11 |
| Abnormal circulating carboxylic acid concentration 89 166 2.8376511535312776 3.870649316453493e-11 |
| Failure to thrive 285 710 1.6793194115474044 1.166927128531581e-10 |
| Increased serum pyruvate 35 47 7.093901476721903 1.9486822605877603e-10 |
| Upper motor neuron dysfunction 350 911 1.5686881730876925 4.465731243777223e-10 |
| Atrophy degeneration affecting the central nervous system 285 718 1.6463475498899014 4.785237756963769e-10 |
| Abnormal cellular phenotype 183 426 1.8662280412606744 7.318181106920893e-10 |
| Abnormal activity of mitochondrial respiratory chain 55 92 3.6273914363802 1.099641411605649e-09 |
| Decreased activity of mitochondrial complex i 36 51 5.83680649526387 1.275964848435193e-09 |
| Hypertrophic cardiomyopathy 110 229 2.2724356918339854 1.3053648593087732e-09 |
| Pace of progression 155 351 1.9534863645846072 1.4974624453914406e-09 |
| Lethargy 79 150 2.7245857569032457 1.4743319711522271e-09 |
| Abnormality of the abdominal organs 331 862 1.5631826388136938 1.5246148207812691e-09 |
| Leukodystrophy 58 100 3.370954653163242 1.981423699400087e-09 |
| Pediatric onset 217 530 1.7216095328555392 3.1918780010299872e-09 |
| Abnormal reflex 334 876 1.5445317207122409 3.2119772538230723e-09 |
| Intrauterine growth retardation 185 439 1.8033515760654608 3.659787581016213e-09 |
| Hepatomegaly 166 386 1.8647365373480025 4.20786980896665e-09 |
| Abnormality of the liver 283 728 1.5867184292060177 6.6785870438550445e-09 |
| Abnormal abdomen morphology 209 511 1.716331178179724 7.015188337261217e-09 |
| Macrocytic anemia 34 49 5.508812260536399 7.503613396164719e-09 |
| Abnormal erythrocyte morphology 183 437 1.7825857830426943 7.929035967700863e-09 |
| Feeding difficulties 318 834 1.5413890869875284 8.00129301343034e-09 |
| Abnormal emotion affect behavior 214 527 1.695974992927083 9.351355684106867e-09 |
| Metabolic acidosis 60 108 3.050818553888131 1.0106598509245007e-08 |
| Peripheral neuropathy 158 368 1.8567933595456527 1.1500857319477593e-08 |
| Reduced consciousness confusion 122 269 2.0407072933703096 1.313312647393325e-08 |
| Hyperammonemia 36 54 4.861975642760487 1.4357714887547384e-08 |
| Increased csf lactate 51 89 3.2701551566778218 3.2381127969868456e-08 |
| Muscle weakness 271 705 1.5536017017327255 4.8634681221728006e-08 |
| Infantile onset 170 409 1.7555577960377071 5.102090919727324e-08 |
| Abnormal liver morphology 223 567 1.6060075419721669 1.0240352013421377e-07 |
| Elevated hepatic transaminase 94 201 2.1513967093000006 1.0474248224003381e-07 |
| Irritability 75 152 2.3798022341045995 1.397880421041071e-07 |
| Leukoencephalopathy 92 197 2.1448538587848933 1.5493299031322756e-07 |
| Abnormal csf metabolite level 57 107 2.778725724020443 1.6775019442959393e-07 |
| Pure red cell aplasia 19 23 11.503531786074673 1.773769657228889e-07 |
| Encephalopathy 100 219 2.0587073003475247 1.784766467451821e-07 |
| Progressive 101 222 2.045055758681116 1.9322287831322039e-07 |
| Abnormality of hepatobiliary system physiology 75 153 2.34896231639461 1.963031142271681e-07 |
| Malignant genitourinary tract tumor 20 25 9.689098250336473 2.238830004364155e-07 |
| Abnormality of the cerebral subcortex 344 938 1.4456244214552372 2.291805603152874e-07 |
| Sprengel anomaly 29 43 5.026517525673786 2.5406735679218697e-07 |
| Abnormal blood glucose concentration 91 196 2.120808916465587 2.5167154164868484e-07 |
| Involuntary movements 308 830 1.4689403931913825 3.055376622775958e-07 |
| Atrophy degeneration affecting the cerebrum 228 589 1.5636377484956965 3.219444139573707e-07 |
| Hyperreflexia 223 575 1.5676770412685903 3.689458518005658e-07 |
| Abnormality of coordination 299 806 1.466584782960572 4.787755264166347e-07 |
| Hypertrichosis 99 220 2.003173805109512 4.81842191950608e-07 |
| Cerebellar atrophy 129 304 1.8097719674666928 5.624118269311982e-07 |
| Developmental regression 119 276 1.85915652206686 5.748948618743968e-07 |
| Persistence of hemoglobin f 19 24 9.201547258661284 6.159934168181507e-07 |
| Poor head control 71 146 2.310437064932101 6.074681265619958e-07 |
| Abnormal circulating dicarboxylic acid concentration 42 74 3.1909322033898304 7.49827705466323e-07 |
| Spastic diplegia 24 34 5.817250673854447 7.711226438125252e-07 |
| Respiratory insufficiency 170 424 1.648325585807798 8.680540960522953e-07 |
| Abnormal glucose homeostasis 171 427 1.645177906770649 8.808436625728017e-07 |
| Abnormal urine metabolite level 147 361 1.6877124977415698 1.7217485032842698e-06 |
| Hypoplasia of the corpus callosum 172 435 1.609702559124127 2.103690010146917e-06 |
| Impairment in personality functioning 197 509 1.5569515159855052 2.1307344291636307e-06 |
| Abnormality of urine homeostasis 180 459 1.588812921580324 2.2615562581019167e-06 |
| Abnormal number of erythroid precursors 24 36 4.846361185983827 3.8340563297422445e-06 |
| Abnormality of the biliary system 110 260 1.794910941475827 4.485718609626217e-06 |
| Abnormal reticulocyte morphology 32 54 3.5292383292383294 4.412886778763413e-06 |
| Paroxysmal involuntary eye movements 22 32 5.328888888888889 4.517248699676479e-06 |
| Thrombocytosis 28 45 3.993728665555291 4.617868433511831e-06 |
| Erythroid hypoplasia 18 24 7.260928043039677 4.86293333796682e-06 |
| Organic aciduria 37 66 3.0979053620397923 5.050403611882922e-06 |
| Muscle abnormality related to mitochondrial dysfunction 37 66 3.0979053620397923 5.050403611882922e-06 |
| Abnormal corpus callosum morphology 270 736 1.4342363763074992 5.032193759987592e-06 |
| Secondary microcephaly 68 145 2.152521896707943 5.251616566754842e-06 |
| Nonimmune hydrops fetalis 26 41 4.201258709822432 6.111481253595038e-06 |
| Abnormal myocardium morphology 165 421 1.5840831712062258 6.246470611620616e-06 |
| Fetal distress 25 39 4.327362896624777 6.965664570600805e-06 |
| Abnormal circulating amino acid concentration 50 99 2.481652076194176 7.186543682630784e-06 |
| Poor eye contact 40 74 2.857484457197513 7.135199690905889e-06 |
| Vomiting 91 210 1.8676115741022363 9.416767715510071e-06 |
| Osteosarcoma 22 33 4.843771043771044 9.796100031117376e-06 |
| Abnormality of the frontal hairline 72 158 2.040841032175852 9.980796668534084e-06 |
| Normochromic anemia 21 31 5.084954560753955 1.0725140552926746e-05 |
| Abnormal circulating nitrogen compound concentration 51 103 2.385060026678524 1.199699175216465e-05 |
| Cns hypomyelination 37 68 2.897232683805469 1.2794618546924024e-05 |
| Progressive microcephaly 41 78 2.6912269775705897 1.3668932766355378e-05 |
| Low anterior hairline 53 109 2.301827638166529 1.580830215186904e-05 |
| Abnormal mitochondria in muscle tissue 23 36 4.285125786978263 1.7676295179688084e-05 |
| Mitochondrial myopathy 30 52 3.3064268614572465 1.836183349884391e-05 |
| Ptosis 209 561 1.461866690621631 2.0442733726218954e-05 |
| Abnormality of the basal ganglia 83 191 1.8746673796519104 2.020307133745371e-05 |
| Abnormal urine ph 41 79 2.6200395940715904 2.0424584722179688e-05 |
| Increased mean corpuscular volume 21 32 4.62204338912518 2.257657045431504e-05 |
| Paralysis 49 100 2.3351988433837687 2.522596323351822e-05 |
| Abnormality of hindbrain morphology 261 722 1.3978837021074813 2.5245746478767237e-05 |
| Dystonia 161 418 1.5372701070829216 2.490897987409537e-05 |
| Anemia of inadequate production 61 132 2.0908741428441 2.761209201617745e-05 |
| Adenocarcinoma of the colon 19 28 5.109130321037486 2.7537170275835923e-05 |
| Reticulocytopenia 19 28 5.109130321037486 2.7537170275835923e-05 |
| Corpus callosum atrophy 15 20 7.254618743701713 3.1571338314522826e-05 |
| Abnormal brainstem mri signal intensity 23 37 3.978492036760814 3.377169316901164e-05 |
| Abnormality of the philtrum 193 517 1.4641913558193185 3.7016370146713606e-05 |
| Abnormal basal ganglia mri signal intensity 29 51 3.195133924462308 3.673812843622582e-05 |
| Decreased activity of the pyruvate dehydrogenase complex 22 35 4.097435897435897 3.9088654047196735e-05 |
| Tremor 157 410 1.5215049041135995 4.471412689412363e-05 |
| Skeletal muscle atrophy 157 410 1.5215049041135995 4.471412689412363e-05 |
| Abnormality of muscle size 188 504 1.4614565087849185 4.913649203349385e-05 |
| Focal t2 hyperintense brainstem lesion 20 31 4.400464945552429 5.1260061464498605e-05 |
| Reduced tendon reflexes 159 417 1.511004030569944 5.186601197617612e-05 |
| Hyporeflexia 114 284 1.6389567918897927 5.167876444660048e-05 |
| Acute myeloid leukemia 32 59 2.873673673673674 5.302929474258105e-05 |
| Mortality aging 101 247 1.6888927848827016 5.800267418138871e-05 |
| Abnormality of upper lip 241 668 1.3903881662789006 6.057044070695136e-05 |
| Developmental cataract 51 108 2.174323090964405 6.087509965695748e-05 |
| Motor delay 214 586 1.41477197953196 6.884865964717075e-05 |
| Abnormal hemoglobin 22 36 3.804232804232804 7.273664655219555e-05 |
| Proximal tubulopathy 25 43 3.363854248586301 7.642234714984368e-05 |
| Fasciculations 36 70 2.568255989811351 8.242199556938579e-05 |
| Abnormality of the urinary system physiology 258 724 1.3644772080085146 8.68148555078298e-05 |
| Intellectual disability severe 137 355 1.5377528559263485 8.902043123140139e-05 |
| Opisthotonus 24 41 3.418582527350563 9.140947283446375e-05 |
| Abnormal circulating bilirubin concentration 28 51 2.949422050108549 0.0001160433835558 |
| Abnormal hair pattern 111 280 1.6038255125911656 0.0001179132779954 |
| Progressive cerebellar ataxia 37 74 2.4253807106598986 0.0001415936878721 |
| Acute leukemia 42 87 2.264994350282486 0.0001431667293151 |
| Neoplasm of the colon 35 69 2.496071137281426 0.0001474396445732 |
| Cholestasis 72 169 1.806609235983618 0.0001483366535126 |
| Abnormal hair morphology 318 918 1.3089454001495886 0.0001540780831501 |
| Gait disturbance 292 836 1.3240196078431372 0.0001530096910402 |
| Cerebral white matter atrophy 21 35 3.63009087849209 0.0001541668270028 |
| Muscle spasm 55 122 1.994801274526245 0.0001526500746134 |
| Inability to walk 82 198 1.721815380969309 0.0001695145990805 |
| Horseshoe kidney 41 85 2.2608668864175474 0.0001750371160668 |
| Premature ventricular contraction 7 7 inf 0.0001864518143274 |
| Cessation of head growth 7 7 inf 0.0001864518143274 |
| Persistent head lag 7 7 inf 0.0001864518143274 |
| Abnormal circulating lipid concentration 73 173 1.776608427543679 0.0001915352739239 |
| Abnormal conjugate eye movement 290 833 1.3165951692559772 0.0002081963871338 |
| Decreased plasma carnitine 12 16 7.248322147651007 0.0002083577679928 |
| Coma 35 70 2.424416638484951 0.0002124572935753 |
| Abnormal erythrocyte enzyme level 19 31 3.830250028030048 0.0002147131874405 |
| High palate 199 550 1.391091689337303 0.0002227849380754 |
| Abnormality of the hairline 87 214 1.6688549473484489 0.0002324179270314 |
| Smooth philtrum 68 160 1.7977755308392316 0.0002436188992695 |
| Abnormal tendon morphology 202 560 1.3845257403736408 0.0002424558113393 |
| Adenocarcinoma of the intestines 21 36 3.387613598115113 0.0002681690796319 |
| Abnormal cardiac ventricle morphology 177 484 1.412591919741265 0.0002674440905565 |
| Abnormal circulating proteinogenic amino acid concentration 32 63 2.501482127288579 0.000271211240726 |
| Functional abnormality of the inner ear 231 651 1.351394422310757 0.0002727611071853 |
| Functional motor deficit 138 366 1.4794379080146056 0.0002837715169701 |
| Abnormality of the thenar eminence 17 27 4.110857142857143 0.000292696626648 |
| Muscular hypotonia of the trunk 74 178 1.7312964622765856 0.0003001429128836 |
| Optic atrophy 174 476 1.4111600449334694 0.0003081574061658 |
| Myopathy 93 233 1.6186665352584635 0.0003093520490295 |
| Abnormal mean corpuscular volume 23 41 3.092661202799297 0.0003063611139812 |
| Impaired social interactions 47 103 2.037084647101625 0.0003186123504006 |
| Abnormality of the musculature of the limbs 146 391 1.457131383825491 0.000318339913623 |
| Short nose 96 242 1.6025126769091047 0.0003220811429763 |
| Abnormal ventricular septum morphology 140 373 1.4686478579898754 0.0003240048376972 |
| Abnormality of the curvature of the vertebral column 297 860 1.299938376771668 0.0003248641577512 |
| Tremor by anatomical site 27 51 2.724283305227656 0.0003401264222912 |
| Abnormal esophagus physiology 209 585 1.363762509460937 0.0003492536810343 |
| Kyphosis 140 374 1.4621618057803192 0.0003705588039783 |
| Delayed myelination 75 182 1.7053591739048248 0.0003769523811699 |
| Progressive spasticity 15 23 4.532247228753779 0.0003858843489266 |
| Abnormal brainstem morphology 87 217 1.6296517939891433 0.0004014168740524 |
| Abnormality of circulating enzyme level 91 229 1.6061577966618208 0.0004253896780541 |
| Abnormality of upper lip vermillion 119 312 1.5046448171199067 0.0004344714539679 |
| Abnormal pyramidal sign 116 303 1.5134879846489109 0.0004321241794534 |
| Abnormality of the kidney 316 924 1.2810852804657384 0.000449215176399 |
| Joint stiffness 57 132 1.8460102214650769 0.000463059701643 |
| Gliosis 39 83 2.149124157251485 0.0004882953606357 |
| Delayed closure of the anterior fontanelle 12 17 5.797852348993288 0.0005188021872572 |
| Autistic behavior 179 496 1.3824649189600784 0.0005269322055131 |
| Delusions 20 35 3.225213100044863 0.0005439302485961 |
| Abnormal cerebral cortex morphology 214 605 1.342280136770644 0.0005541369203731 |
| Lower limb spasticity 75 184 1.6735964120483215 0.0005544696632482 |
| Abnormal nervous system electrophysiology 174 481 1.3871713484509771 0.0005514915587512 |
| Peripheral axonal degeneration 68 164 1.7218992248062015 0.0005643244332287 |
| Thin vermilion border 122 323 1.4810373221003 0.0005775947714713 |
| Emg neuropathic changes 24 45 2.765883711975356 0.0006239405048568 |
| Decreased circulating progesterone 6 6 inf 0.0006362839879295 |
| Abnormal circulating progesterone level 6 6 inf 0.0006362839879295 |
| Cerebellar hemorrhage 6 6 inf 0.0006362839879295 |
| Cerebral hypomyelination 16 26 3.867741935483871 0.0006398530775459 |
| Absent speech 102 264 1.5342047930283225 0.0006464762739966 |
| Partial duplication of the phalanx of hand 19 33 3.2821584738840035 0.0006570693530374 |
| Abnormal metabolism 46 103 1.957825657150344 0.0006591357138747 |
| Abnormal thrombocyte morphology 116 306 1.4889539565185566 0.0006664784745708 |
| Abnormal palate morphology 271 786 1.293584240516943 0.0006672781613479 |
| Abnormal pattern of respiration 174 483 1.3777932431594395 0.000690370598731 |
| Abnormal cardiac septum morphology 193 542 1.354367247410301 0.0007044485469816 |
| Delayed cranial suture closure 29 58 2.4215322308471143 0.0007228910993129 |
| Nausea and vomiting 132 355 1.4448430493273543 0.0007360709723837 |
| Abnormality of the optic nerve 228 652 1.3190481391475302 0.0007594384727117 |
| Displacement of the urethral meatus 114 301 1.4863597343669288 0.0007677881918342 |
| Renal tubular dysfunction 38 82 2.093309534067828 0.0008006541844821 |
| Abnormality of the gallbladder 38 82 2.093309534067828 0.0008006541844821 |
| Abnormality of the musculature of the hand 35 74 2.1745445401177563 0.0008027562178011 |
| Functional abnormality of the gastrointestinal tract 258 747 1.2958608030661385 0.0008006445841565 |
| Abnormal involuntary eye movements 271 788 1.2881947628481678 0.0007935056920594 |
| Thin upper lip vermilion 90 230 1.5648321354730728 0.0008201032529421 |
| Abnormal lip morphology 273 795 1.2852553127628903 0.0008400699222853 |
| Delayed gross motor development 103 269 1.5115790263859177 0.0008770003831932 |
| Leukemia 52 121 1.828946071182096 0.0009194816244999 |
| Emotional lability 52 121 1.828946071182096 0.0009194816244999 |
| Dicarboxylic aciduria 22 41 2.801169590643275 0.0009359336347261 |
| Hydrops fetalis 40 88 2.020099367660343 0.0009480926043693 |
| Small for gestational age 74 184 1.6354788460340208 0.0009467553038398 |
| Abnormality of the outer ear 314 927 1.260694657818464 0.000957209341081 |
| Slowly progressive 54 127 1.7954344116303145 0.0010018706727662 |
| Hyperactivity 144 394 1.406426966292135 0.0009977279242093 |
| Hepatic failure 45 102 1.9146143267908489 0.0010279529149056 |
| Abnormality of prenatal development or birth 224 643 1.3104418723357292 0.001059812119929 |
| Abnormal eyelid morphology 322 954 1.2540795524581614 0.0010697891996477 |
| Progressive spastic paraplegia 27 54 2.4205733558178752 0.0010906120917316 |
| Proximal upper limb amyotrophy 7 8 16.89145728643216 0.0011092501353585 |
| Cleft soft palate 57 136 1.7515580186746598 0.0011191297570927 |
| Abnormal urine carboxylic acid level 21 39 2.821833277235499 0.0011466415218859 |
| Absent thumb 23 44 2.6497457858185376 0.0011605166854297 |
| Abnormality of the pinna 215 616 1.3134655259582408 0.0011919486749575 |
| Pallor 48 111 1.8480848861283643 0.0012089282775941 |
| Abnormal nerve conduction velocity 40 89 1.9785963165754104 0.0012408068849348 |
| Elevated circulating aspartate aminotransferase concentration 11 16 5.312915129151292 0.0012685134835702 |
| Epicanthus 155 430 1.3766078123497931 0.0012880626042311 |
| Abnormal location of ears 223 642 1.304120543590778 0.001290696928351 |
| Dysarthria 151 418 1.3809124549961966 0.0013358716581918 |
| Progressive spastic quadriplegia 8 10 9.654155495978552 0.0013468020463368 |
| Elevated circulating alanine aminotransferase concentration 10 14 6.036217303822937 0.0013691325828546 |
| Distal amyotrophy 57 137 1.729420783645656 0.0013772637763395 |
| Hepatic necrosis 9 12 7.24203821656051 0.0014113296341133 |
| Cherry red spot of the macula 9 12 7.24203821656051 0.0014113296341133 |
| Abnormal platelet volume 9 12 7.24203821656051 0.0014113296341133 |
| Short thumb 38 84 2.0017367754849724 0.0014013366320075 |
| Abnormality of neutrophils 79 201 1.5742826110201302 0.0014292238613193 |
| Abnormality of the musculature of the upper limbs 69 172 1.6274309211509654 0.0014934513095042 |
| Dysmetria 53 126 1.7615860394225973 0.0014886866394997 |
| Abnormal myeloid leukocyte morphology 89 231 1.5246927656188596 0.0015283991393979 |
| Jaundice 54 129 1.7470660313138189 0.0015404800811176 |
| Pes cavus 94 246 1.504867240565181 0.0015514719874802 |
| Joint laxity 72 181 1.6050018851325876 0.0015617615376921 |
| Obsessive compulsive behavior 40 90 1.9387533875338756 0.0016096581569343 |
| Acute hepatic failure 14 23 3.7583016192821432 0.0016316809066586 |
| Respiratory failure 64 158 1.6532961283571677 0.001638179710979 |
| Delayed puberty 50 118 1.7835006198264487 0.001653672396974 |
| Abnormal muscle fiber morphology 65 161 1.6442460995330828 0.0016699682705836 |
| Abnormal hair quantity 203 582 1.3107231481385124 0.001678705275158 |
| Babinski sign 82 211 1.5454593889022084 0.0017211373911248 |
| Focal t2 hyperintense basal ganglia lesion 21 40 2.6729437191092846 0.00175290852496 |
| Exercise intolerance 34 74 2.0586206896551724 0.0017711606957685 |
| Mental deterioration 94 247 1.4948195059021998 0.0017953081080153 |
| Depression 98 259 1.481355728493735 0.0017975935296337 |
| Spastic tetraplegia 38 85 1.9588729310419335 0.0018275759799739 |
| Abnormal circulating protein concentration 140 387 1.3826223234210242 0.0018470265365364 |
| Infantile muscular hypotonia 62 153 1.6539999249896862 0.0018968866561743 |
| Abnormal eyelash morphology 75 191 1.5710519782960766 0.0019144319927452 |
| Broad eyebrow 13 21 3.925310506881504 0.0019328392783177 |
| Delayed ability to walk 64 159 1.6356629278113315 0.0019693505080876 |
| Language impairment 254 745 1.2683392370187108 0.0019780965586401 |
| Gait ataxia 66 165 1.6188197767145136 0.0020352174436537 |
| Somatic sensory dysfunction 100 266 1.466030095485677 0.0020616205594248 |
| Generalized onset seizure 100 266 1.466030095485677 0.0020616205594248 |
| Cognitive impairment 160 450 1.3469705825053575 0.0020995301664023 |
| Tetraplegia tetraparesis 45 105 1.818120122158127 0.0021018358551333 |
| Abnormal tongue physiology 18 33 2.9007397444519167 0.0021108636375779 |
| Brisk reflexes 22 43 2.5336860670194 0.0021192585882042 |
| Paraplegia paraparesis 71 180 1.582168353806193 0.0021720533599599 |
| Weakness of muscles of respiration 33 72 2.0488990563340006 0.0021602936452067 |
| Acantholysis 5 5 inf 0.0021708637834203 |
| Long philtrum 120 327 1.4123370069839731 0.0021520318911041 |
| Neoplasm of the large intestine 41 94 1.8745868046009349 0.0021884107854952 |
| Distal sensory impairment 42 97 1.8505885978428351 0.0023036607350377 |
| Sarcoma 54 131 1.7012102941306482 0.0023183208749163 |
| Abnormal cardiac atrium morphology 138 383 1.373427913562061 0.0023568251945296 |
| Vertebral compression fracture 15 26 3.2948056310501723 0.0023648751464266 |
| Hallucinations 43 100 1.828279583325897 0.0024159356475692 |
| Leukopenia 43 100 1.828279583325897 0.0024159356475692 |
| Abnormal scalp morphology 110 298 1.4243949975637489 0.0025852179097646 |
| Motor axonal neuropathy 17 31 2.9346938775510205 0.0025878170031332 |
| Diffuse mesangial sclerosis 17 31 2.9346938775510205 0.0025878170031332 |
| Myelodysplasia 40 92 1.8636647904940589 0.0026412367924124 |
| Delayed cns myelination 32 70 2.0386913229018493 0.0026350544735441 |
| Abnormal glial cell morphology 54 132 1.679164266638739 0.0028220334793015 |
| Abnormal social behavior 65 164 1.5937475196101776 0.0028479958105366 |
| Neoplasm of the skeletal system 37 84 1.906678186989236 0.0028599262383952 |
| Simplified gyral pattern 30 65 2.0745635188579143 0.0029560549526915 |
| Wide nose 38 87 1.878393876169289 0.0030255823168989 |
| Distal muscle weakness 61 153 1.6088588254490974 0.0032143000985505 |
| Basal ganglia cysts 6 7 14.473543201607502 0.0033352770296439 |
| Delayed menarche 6 7 14.473543201607502 0.0033352770296439 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 6 7 14.473543201607502 0.0033352770296439 |
| Papillary renal cell carcinoma 6 7 14.473543201607502 0.0033352770296439 |
| Narrow forehead 46 110 1.741980651731161 0.0033836623682515 |
| Psychomotor deterioration 9 13 5.430774388199799 0.0033914797399649 |
| Facial hypertrichosis 54 133 1.6576763664251062 0.0034179766512428 |
| Abnormal circulating fatty acid anion concentration 13 22 3.4886800193950243 0.0034631838513911 |
| Abnormality of fluid regulation 151 427 1.3341495390988067 0.0035033325004011 |
| Hypoketotic hypoglycemia 8 11 6.435210008936551 0.0036639936955216 |
| Juvenile cataract 7 9 8.444556113902848 0.0037189542211699 |
| Abnormal circulating monocarboxylic acid cocentration 7 9 8.444556113902848 0.0037189542211699 |
| Peritonitis 15 27 3.01981860933826 0.003889959185425 |
| Brittle hair 15 27 3.01981860933826 0.003889959185425 |
| Abnormal macroscopic urine appearance 19 37 2.551369735022611 0.0039712761157832 |
| Peripheral axonal neuropathy 54 134 1.6367256637168142 0.0041194705500217 |
| Emg abnormality 71 184 1.525301978653207 0.0041453387676926 |
| Abnormal gallbladder morphology 31 69 1.974315220675803 0.0042217142333883 |
| Glomerular sclerosis 31 69 1.974315220675803 0.0042217142333883 |
| Dementia 55 137 1.6264730063030968 0.0041912511136149 |
| Blindness 76 199 1.500429366433582 0.0042112571899466 |
| Abnormal immune system morphology 142 401 1.3360292623450518 0.0042978359490859 |
| Abnormal neutrophil count 59 149 1.5900518998371027 0.0044368399975891 |
| Postnatal growth retardation 60 152 1.5819443620618068 0.0044883553922787 |
| Abnormality of vitamin metabolism 25 53 2.159468438538206 0.0044923963949516 |
| Motor seizure 100 272 1.413683296342758 0.004519281873538 |
| Abnormality of the coagulation cascade 37 86 1.8283435201491764 0.0046326783695752 |
| Rigidity 51 126 1.6483236994219652 0.0046902964409545 |
| Head tremor 14 25 3.074119299102509 0.0047686729472692 |
| Vocal cord paralysis 18 35 2.558764191621504 0.0049044494034068 |
| Optic neuropathy 23 48 2.224546985517009 0.0049514969462187 |
| Abnormal circulating glycine concentration 11 18 3.79388508170796 0.0050034249172022 |
| Aspiration 11 18 3.79388508170796 0.0050034249172022 |
| Abnormality of the voice 127 356 1.350168042250623 0.0050613609258345 |
| Prenatal movement abnormality 56 141 1.5974675428754608 0.0050829090956895 |
| Abnormality of the urethra 124 347 1.3534908156181398 0.0052209509769137 |
| Abnormal cortical gyration 124 347 1.3534908156181398 0.0052209509769137 |
| Dyspnea 96 261 1.4141637368156703 0.0052443047094577 |
| Abnormal peripheral nervous system physiology 48 118 1.6616459627329192 0.0053323934743631 |
| Optic disc pallor 49 121 1.64924302488013 0.0054428101545016 |
| Glucose intolerance 102 280 1.3931262392597488 0.005688780432132 |
| Thick upper lip vermilion 10 16 4.023027051196065 0.0059607039016461 |
| Moderate global developmental delay 10 16 4.023027051196065 0.0059607039016461 |
| Abnormal joint morphology 251 750 1.2304470305075674 0.0060440873259708 |
| Wormian bones 17 33 2.567142857142857 0.0060630461587308 |
| X linked dominant inheritance 22 46 2.216049382716049 0.0060966059964169 |
| Hemolytic anemia 33 76 1.8572663611999651 0.0061308500681262 |
| Decreased activity of mitochondrial complex iv 15 28 2.787137283274334 0.0061301531310488 |
| Intellectual disability mild 118 330 1.354131379577474 0.0061842126864082 |
| Proximal muscle weakness 59 151 1.5550482515305593 0.0062105831324328 |
| Chorea 83 223 1.4396503462161765 0.0063608220705722 |
| Congenital onset 103 284 1.3833554213065753 0.0063513412186253 |
| Abnormal granulocyte count 64 166 1.521911496839173 0.0064006909916428 |
| Aminoaciduria 34 79 1.8286079182630908 0.0064340275101001 |
| Osteopenia 67 175 1.5050079138968029 0.0064653435777571 |
| Prominent forehead 74 196 1.4721176642434184 0.0064991408761994 |
| Serositis 20 41 2.3018009357174902 0.006659101137982 |
| Death in childhood 23 49 2.138689535456124 0.0067805811341312 |
| Action tremor 52 131 1.595195040041333 0.0068484260086823 |
| Abnormality of peripheral nerves 43 105 1.6796617770922893 0.0070245844906395 |
| Abnormal cerebrospinal fluid metabolite concentration 9 14 4.344016091183373 0.0070317046227954 |
| Hypoglycemic coma 9 14 4.344016091183373 0.0070317046227954 |
| Dermal translucency 9 14 4.344016091183373 0.0070317046227954 |
| Wide nasal bridge 151 434 1.2998347021093204 0.0069140440854792 |
| Microvesicular hepatic steatosis 9 14 4.344016091183373 0.0070317046227954 |
| Oral aversion 9 14 4.344016091183373 0.0070317046227954 |
| Orthostatic hypotension due to autonomic dysfunction 9 14 4.344016091183373 0.0070317046227954 |
| Hypsarrhythmia 56 143 1.5603056782235585 0.007145008373806 |
| Abnormal circulating serine family amino acid concentration 12 21 3.21923937360179 0.0071580929800643 |
| Abnormal glomerular mesangium morphology 18 36 2.4162743779421656 0.0071554087104522 |
| Acidemia 12 21 3.21923937360179 0.0071580929800643 |
| Scleral staphyloma 4 4 inf 0.0074047669614467 |
| Wide mouth 61 158 1.524855174160327 0.0073814545390598 |
| Osteolytic defects of the distal phalanges of the hand 4 4 inf 0.0074047669614467 |
| Abnormality of the forehead 283 856 1.2089318972309353 0.0074561595365186 |
| Incoordination 65 170 1.5014072591797225 0.0074804763644316 |
| Focal segmental glomerulosclerosis 21 44 2.206854667583744 0.0075117310635644 |
| Abnormality of central nervous system electrophysiology 142 407 1.3046514399205562 0.0077588399626729 |
| Short attention span 126 357 1.3270950961111465 0.0077568811281987 |
| Abnormal fear anxiety related behavior 105 292 1.364747744360206 0.0078447335794448 |
| Basal ganglia gliosis 8 12 4.825737265415549 0.0081693218182727 |
| Juvenile onset 41 100 1.6825379503644269 0.0081579972688271 |
| Abnormality of the lower urinary tract 206 610 1.244553744678129 0.0080866882492981 |
| Abnormal temper tantrums 8 12 4.825737265415549 0.0081693218182727 |
| Aplasia hypoplasia involving the skeleton 286 867 1.2048052838531829 0.008123251297706 |
| Aplasia of the uterus 8 12 4.825737265415549 0.0081693218182727 |
| Progressive psychomotor deterioration 8 12 4.825737265415549 0.0081693218182727 |
| Hyperconvex nail 8 12 4.825737265415549 0.0081693218182727 |
| Supranuclear gaze palsy 19 39 2.2955936764211238 0.0082259995790323 |
| Abnormal circulating pyruvate family amino acid concentration 19 39 2.2955936764211238 0.0082259995790323 |
| Interictal eeg abnormality 80 216 1.4277634130575307 0.008379977576856 |
| Epileptic spasm 62 162 1.503235494880546 0.0086387971533463 |
| Chronic constipation 26 58 1.9646830748482804 0.0086879407245178 |
| Frequent falls 36 86 1.7425169147496615 0.0087001101722072 |
| Vertical supranuclear gaze palsy 11 19 3.319188191881919 0.0087588981682524 |
| Periventricular cysts 7 10 5.62892238972641 0.0092539759620946 |
| Abnormality of the musculature of the upper arm 7 10 5.62892238972641 0.0092539759620946 |
| Abnormality of globe location 256 772 1.2127476313522825 0.0091360229798165 |
| Abnormal csf carboxylic acid concentration 7 10 5.62892238972641 0.0092539759620946 |
| Abnormal urine alpha ketoglutarate concentration 7 10 5.62892238972641 0.0092539759620946 |
| Abnormality of glycolipid metabolism 7 10 5.62892238972641 0.0092539759620946 |
| Increased serine family amino acid in urine 7 10 5.62892238972641 0.0092539759620946 |
| Emg chronic denervation signs 13 24 2.8535811285056 0.0093646633340449 |
| Tetraplegia 13 24 2.8535811285056 0.0093646633340449 |
| Sensory neuropathy 32 75 1.8003771213073538 0.0093589085288099 |
| Elevated creatine kinase after exercise 5 6 12.05724807499163 0.0098437627608459 |
| Abnormal csf pyruvate family amino acid concentration 5 6 12.05724807499163 0.0098437627608459 |
| Abdominal pain 77 208 1.4262134523980987 0.0096838728185826 |
| Anisocoria 5 6 12.05724807499163 0.0098437627608459 |
| Gastrointestinal carcinoma 28 64 1.8809416704153543 0.0098160676917515 |
| Hypermethioninemia 5 6 12.05724807499163 0.0098437627608459 |
| Abnormal circulating amylase level 5 6 12.05724807499163 0.0098437627608459 |
| Limb muscle weakness 76 205 1.4294297168256398 0.0097297096796612 |
| Developmental glaucoma 24 53 2.000650618087183 0.0098842180114275 |
| Hyperconvex fingernails 6 8 7.2357669122572 0.0100133577125287 |
| Dermatological manifestations of systemic disorders 68 181 1.4593537764972218 0.0099933015296491 |
| Abnormal soft palate morphology 67 178 1.4637129437129437 0.010010664543004 |
| Foam cells 6 8 7.2357669122572 0.0100133577125287 |
| Weakness due to upper motor neuron dysfunction 127 363 1.3088058686070931 0.0103099763667092 |
| Aplasia of the fingers 25 56 1.9496722006588605 0.0106008911498131 |
| Limitation of joint mobility 97 270 1.3617398943763914 0.0105930470860469 |
| Abnormal scapula morphology 46 116 1.5913296479487926 0.0107474354571348 |
| Spastic paraplegia 46 116 1.5913296479487926 0.0107474354571348 |
| Areflexia 81 221 1.4039946999067576 0.010746513011684 |
| Sensorimotor neuropathy 30 70 1.813977042538825 0.0108217843907217 |
| Delayed ability to sit 16 32 2.415322580645161 0.0109805772698095 |
| Abnormal jaw morphology 266 807 1.2017893008111118 0.0109439678262021 |
| Unsteady gait 48 122 1.570945945945946 0.0109885647074993 |
| Abnormal inflammatory response 224 672 1.2203757225433527 0.0111628108362632 |
| Abnormal penis morphology 183 541 1.2458140335036425 0.0112904452412535 |
| Proximal amyotrophy 14 27 2.6004546159012243 0.0115395670542356 |
| Ventricular tachycardia 14 27 2.6004546159012243 0.0115395670542356 |
| Minimal change glomerulonephritis 14 27 2.6004546159012243 0.0115395670542356 |
| Congestive heart failure 60 158 1.483837737004761 0.011607826613622 |
| Kinetic tremor 32 76 1.759213759213759 0.0117065874095104 |
| Splenomegaly 84 231 1.3867164472391431 0.0118783702878643 |
| Abnormal thoracic spine morphology 27 62 1.865218019754276 0.0119140248490038 |
| Knee flexion contracture 27 62 1.865218019754276 0.0119140248490038 |
| Aplasia hypoplasia of the thumb 42 105 1.6137853107344633 0.0121673503371281 |
| Abnormal thorax morphology 212 635 1.2224875418813883 0.0124219840605597 |
| Abnormality of neuronal migration 141 409 1.279959375343556 0.0124259651684827 |
| Inguinal hernia 76 207 1.4072084524445283 0.0125798634314882 |
| Abnormality of facial skeleton 298 913 1.1851220115764631 0.0126455300549704 |
| Progressive neurologic deterioration 20 43 2.1010591608637137 0.0126246868636697 |
| Dysphagia 125 359 1.2986712934393436 0.0127978778591329 |
| Bone marrow hypocellularity 24 54 1.933692722371968 0.0129354904239723 |
| Exaggerated startle response 9 15 3.619510559839088 0.013037134221247 |
| Positive romberg sign 9 15 3.619510559839088 0.013037134221247 |
| Enchondroma 9 15 3.619510559839088 0.013037134221247 |
| Abnormality of hair texture 50 129 1.5327986644752127 0.0131667779330186 |
| Abnormality of the lens 188 559 1.2348589423657386 0.0132058614858368 |
| Aplasia hypoplasia of the ear 53 138 1.510345655785281 0.013337379657164 |
| Abnormal localization of kidney 61 162 1.463640632231084 0.0134038352969559 |
| Gonosomal inheritance 61 162 1.463640632231084 0.0134038352969559 |
| Impaired proprioception 37 91 1.6578930876731215 0.0134295312192893 |
| Bilateral tonic clonic seizure 83 229 1.3793140795923846 0.0134874291915693 |
| Aplasia hypoplasia of the thymus 15 30 2.4148471615720526 0.0136310039910476 |
| Duplication of thumb phalanx 21 46 2.029740828004039 0.0137497049316327 |
| Sleep disturbance 139 404 1.2757454913398012 0.0139453590294137 |
| Tongue fasciculations 11 20 2.9499794997949977 0.0143648213805219 |
| Hand tremor 11 20 2.9499794997949977 0.0143648213805219 |
| Spinal muscular atrophy 11 20 2.9499794997949977 0.0143648213805219 |
| Abnormal blood transition element cation concentration 11 20 2.9499794997949977 0.0143648213805219 |
| Depressed nasal bridge 147 430 1.2636228706987027 0.0148171385713606 |
| Abnormal systemic arterial morphology 133 386 1.2780982874965263 0.015136670422099 |
| Adult onset 65 175 1.432152063856881 0.0151994014278376 |
| Lipodystrophy 34 83 1.6783954961294862 0.0153001755419917 |
| Pigmentary retinopathy 49 127 1.5210974324124171 0.015370578451922 |
| Neoplasm of the gastrointestinal tract 81 224 1.3739565141145351 0.0154325642560285 |
| Schizophrenia 19 41 2.0863223557471797 0.0155510787458042 |
| Steppage gait 19 41 2.0863223557471797 0.0155510787458042 |
| Abnormal corpus striatum morphology 16 33 2.2729285262492094 0.0156088418449856 |
| Hyperactive patellar reflex 8 13 3.860053619302949 0.0158138691440031 |
| Hypocholesterolemia 8 13 3.860053619302949 0.0158138691440031 |
| Osteolysis involving bones of the upper limbs 8 13 3.860053619302949 0.0158138691440031 |
| Hypoplastic fifth toenail 8 13 3.860053619302949 0.0158138691440031 |
| Abnormality of the musculature of the thigh 8 13 3.860053619302949 0.0158138691440031 |
| Abnormality of mouth size 114 327 1.300091025653574 0.0162063106784117 |
| Long eyelashes 37 92 1.6275219197046609 0.0162503145457024 |
| Glaucoma 86 240 1.354787676191668 0.0165050264577656 |
| Hypoplastic toenails 24 55 1.871054690896444 0.0166951698387642 |
| Hepatocellular carcinoma 20 44 2.0132346343651863 0.016885483363849 |
| Orthostatic hypotension 14 28 2.414372061786434 0.0169489809771555 |
| Distal lower limb amyotrophy 14 28 2.414372061786434 0.0169489809771555 |
| Abnormal circulating cholesterol concentration 31 75 1.7036627674925546 0.0173835143883788 |
| Aplasia hypoplasia of the uterus 17 36 2.160902255639097 0.017457295820703 |
| Deep palmar crease 12 23 2.6331909701037217 0.0178623616665754 |
| 3 methylglutaconic aciduria 10 18 3.016431924882629 0.0178214016945027 |
| Papillary thyroid carcinoma 10 18 3.016431924882629 0.0178214016945027 |
| Pectus excavatum 78 216 1.370564889140879 0.0178138702497395 |
| Agitation 32 78 1.682256169212691 0.0178339973817625 |
| X linked recessive inheritance 46 119 1.5252908517702202 0.017785091918444 |
| Contractures of the joints of the lower limbs 54 143 1.4693554432045035 0.0180134164030763 |
| Disinhibition 53 140 1.4752105063494112 0.0180264301056486 |
| Respiratory distress 51 134 1.4877777003969637 0.0180205545127784 |
| Immunodeficiency 56 149 1.4584102428876975 0.017958711650904 |
| Variable expressivity 76 210 1.375120283356878 0.0181325110535324 |
| Abnormal leukocyte count 97 275 1.3225475927111836 0.0181139755149213 |
| Osteolysis 26 61 1.7955302957325885 0.0183116098313932 |
| Aplastic hypoplastic toenail 33 81 1.662639405204461 0.0182445257836839 |
| Generalized amyotrophy 26 61 1.7955302957325885 0.0183116098313932 |
| Abnormal large intestine morphology 73 201 1.3825047105173005 0.0185987847437718 |
| Hypoplastic fifth fingernail 7 11 4.221105527638191 0.0190364449285724 |
| Aplasia hypoplasia of the cerebellum 129 376 1.269092893980296 0.0190569877330757 |
| Dyschromatopsia 7 11 4.221105527638191 0.0190364449285724 |
| Abnormally low pitched voice 7 11 4.221105527638191 0.0190364449285724 |
| Ankyloglossia 7 11 4.221105527638191 0.0190364449285724 |
| Respiratory tract infection 146 430 1.2499876278047766 0.0192490741866536 |
| Phenotypic variability 97 276 1.3149718740652832 0.0200514579379725 |
| Abnormal circulating albumin concentration 29 70 1.7099264917725114 0.0202669898013745 |
| Abnormal biliary tract morphology 23 53 1.852498035253172 0.0203082854006492 |
| Spastic tetraparesis 23 53 1.852498035253172 0.0203082854006492 |
| Thick eyebrow 43 111 1.5301697484690722 0.020590802730998 |
| Loss of speech 19 42 1.9953348250193768 0.0207461271500594 |
| Abnormality of coagulation 53 141 1.4582418262241332 0.020828279222895 |
| Abnormal renal cortex morphology 50 132 1.47609888743347 0.0209064201735084 |
| Reticulocytosis 13 26 2.413897280966768 0.0211142021243068 |
| Abnormal ldl cholesterol concentration 13 26 2.413897280966768 0.0211142021243068 |
| Abnormality of the anterior fontanelle 31 76 1.6655709407482455 0.021294286307499 |
| Abnormal metabolic brain imaging by mrs 16 34 2.146356033452808 0.0216093127119555 |
| Deviation of the thumb 16 34 2.146356033452808 0.0216093127119555 |
| Low levels of vitamin d 9 16 3.102006608878885 0.0221354017750442 |
| Generalized limb muscle atrophy 9 16 3.102006608878885 0.0221354017750442 |
| Low frustration tolerance 9 16 3.102006608878885 0.0221354017750442 |
| Spastic hyperactive bladder 6 9 4.8231748158071 0.022602164695665 |
| Abnormal mitochondrial morphology 11 21 2.654612546125461 0.0222922226213151 |
| Severe viral infection 6 9 4.8231748158071 0.022602164695665 |
| Premature rupture of membranes 6 9 4.8231748158071 0.022602164695665 |
| Broad neck 11 21 2.654612546125461 0.0222922226213151 |
| Metaphyseal striations 6 9 4.8231748158071 0.022602164695665 |
| Multiple enchondromatosis 6 9 4.8231748158071 0.022602164695665 |
| Exercise induced muscle cramps 6 9 4.8231748158071 0.022602164695665 |
| Monotonic speech 6 9 4.8231748158071 0.022602164695665 |
| Chronic neutropenia 6 9 4.8231748158071 0.022602164695665 |
| Abnormality of pain sensation 26 62 1.7454109537723832 0.0229320878738128 |
| Eczema 36 91 1.5829991388854718 0.0230722969548909 |
| Short philtrum 60 163 1.410813388256798 0.0231537984095274 |
| Restlessness 37 94 1.5699765488170512 0.0233141456723436 |
| Neurodegeneration 27 65 1.7172450519215408 0.0236502610515833 |
| Abnormal gastrointestinal motility 27 65 1.7172450519215408 0.0236502610515833 |
| Long fingers 73 203 1.3608506601312356 0.0235319532303689 |
| Abnormality of exocrine pancreas physiology 17 37 2.0525714285714285 0.0236498351957268 |
| Abnormality of pancreas physiology 40 103 1.535897105002796 0.0238542576833607 |
| Hematological neoplasm 71 197 1.365421713590149 0.0239855506597862 |
| Aggressive behavior 71 197 1.365421713590149 0.0239855506597862 |
| Sensory axonal neuropathy 14 29 2.2531005148869485 0.0240891803677346 |
| Proximal muscle weakness in upper limbs 14 29 2.2531005148869485 0.0240891803677346 |
| Cerebral cortical atrophy 96 275 1.300966079199975 0.0247513246578303 |
| Macrotia 79 222 1.3391116264442733 0.0247286130546149 |
| Anomalous trichromacy 3 3 inf 0.025251518781288 |
| Red green dyschromatopsia 3 3 inf 0.025251518781288 |
| Contractures of the large joints 3 3 inf 0.025251518781288 |
| Tapered distal phalanges of finger 3 3 inf 0.025251518781288 |
| Overtubulated long bones 3 3 inf 0.025251518781288 |
| Tritanomaly 3 3 inf 0.025251518781288 |
| Abnormality of the nail 109 316 1.2779780187371916 0.0251157364983889 |
| Reduced antigen specific t cell proliferation 3 3 inf 0.025251518781288 |
| Abnormal blood chloride concentration 3 3 inf 0.025251518781288 |
| Peripheral hypermyelination 3 3 inf 0.025251518781288 |
| Foot dorsiflexor weakness 30 74 1.6481492848812227 0.0254012569796922 |
| Profound hearing impairment 5 7 6.027787077335119 0.0261149770893629 |
| Sensory ataxia 5 7 6.027787077335119 0.0261149770893629 |
| Steroid resistant nephrotic syndrome 5 7 6.027787077335119 0.0261149770893629 |
| Bilateral sensorineural hearing impairment 23 54 1.792490140049327 0.0257784236095493 |
| Abnormal respiratory system morphology 285 883 1.1630382274123945 0.0255135085198203 |
| Eeg with generalized sharp slow waves 5 7 6.027787077335119 0.0261149770893629 |
| Abnormality of the neck 158 472 1.223338982060422 0.0256520812429191 |
| Pineal cyst 5 7 6.027787077335119 0.0261149770893629 |
| Hip pain 5 7 6.027787077335119 0.0261149770893629 |
| Aplasia hypoplasia affecting bones of the axial skeleton 221 675 1.1857787627361422 0.025733954148185 |
| Laryngotracheomalacia 5 7 6.027787077335119 0.0261149770893629 |
| Abnormal magnesium concentration 5 7 6.027787077335119 0.0261149770893629 |
| Ventricular escape rhythm 5 7 6.027787077335119 0.0261149770893629 |
| Foot acroosteolysis 5 7 6.027787077335119 0.0261149770893629 |
| Flared nostrils 5 7 6.027787077335119 0.0261149770893629 |
| Relative macrocephaly 32 80 1.6117117117117117 0.0262757240260194 |
| Abnormal head movements 12 24 2.4134228187919464 0.0263600600002043 |
| Diminished motivation 24 57 1.757167360940946 0.0267519317035282 |
| Gastroesophageal reflux 117 342 1.262288695652174 0.0267959045823478 |
| Abnormal elasticity of skin 58 158 1.4043353783231085 0.0266801285420033 |
| Dysdiadochokinesis 15 32 2.130154715564425 0.0267822840691732 |
| Muscle fibrillation 15 32 2.130154715564425 0.0267822840691732 |
| Abnormal nasal bridge morphology 250 770 1.171940750715368 0.0270748488944468 |
| Pain 161 483 1.2154715648180854 0.0283654683350693 |
| Abnormal circulating free fatty acid concentration 4 5 9.6425702811245 0.0283403796736022 |
| Elevated urinary delta aminolevulinic acid 4 5 9.6425702811245 0.0283403796736022 |
| Abnormal mitochondrial shape 4 5 9.6425702811245 0.0283403796736022 |
| Elevated serum acid phosphatase 4 5 9.6425702811245 0.0283403796736022 |
| Abnormality of visual evoked potentials 19 43 1.9119295885188925 0.0271756007101636 |
| Hypoamylasemia 4 5 9.6425702811245 0.0283403796736022 |
| High frequency sensorineural hearing impairment 4 5 9.6425702811245 0.0283403796736022 |
| Severe varicella zoster infection 4 5 9.6425702811245 0.0283403796736022 |
| Vocal cord paresis 4 5 9.6425702811245 0.0283403796736022 |
| Erlenmeyer flask deformity of the femurs 4 5 9.6425702811245 0.0283403796736022 |
| Limb fasciculations 4 5 9.6425702811245 0.0283403796736022 |
| Prominent ear helix 4 5 9.6425702811245 0.0283403796736022 |
| Cerebellar hypoplasia 114 333 1.2633868649271278 0.0279571571092483 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 4 5 9.6425702811245 0.0283403796736022 |
| Prominent eyelashes 8 14 3.2162645218945487 0.0275234218388239 |
| Neoplasm of the liver 36 92 1.5545138217668664 0.0274578570748156 |
| Diaphragmatic paralysis 4 5 9.6425702811245 0.0283403796736022 |
| Dysuria 8 14 3.2162645218945487 0.0275234218388239 |
| Distal sensory loss of all modalities 4 5 9.6425702811245 0.0283403796736022 |
| Elevated lactate pyruvate ratio 4 5 9.6425702811245 0.0283403796736022 |
| Abnormality of the hypothenar eminence 4 5 9.6425702811245 0.0283403796736022 |
| Pseudobulbar paralysis 8 14 3.2162645218945487 0.0275234218388239 |
| Profound sensorineural hearing impairment 4 5 9.6425702811245 0.0283403796736022 |
| Abnormal myeloid cell morphology 4 5 9.6425702811245 0.0283403796736022 |
| Paraparesis 25 60 1.7258895469208917 0.027626243581716 |
| Abnormal toenail morphology 44 116 1.478441127694859 0.0281975226610407 |
| Thick vermilion border 76 214 1.3345062722411083 0.0284985691072096 |
| Multiple joint contractures 20 46 1.8578527797908688 0.0286810324807367 |
| Areflexia of lower limbs 20 46 1.8578527797908688 0.0286810324807367 |
| Mildly elevated creatine kinase 20 46 1.8578527797908688 0.0286810324807367 |
| Decreased number of peripheral myelinated nerve fibers 16 35 2.033106960950764 0.029202404851244 |
| Brachycephaly 62 171 1.377367943138053 0.0293011674543357 |
| Apnea 82 233 1.316187615211306 0.0295067573062711 |
| Abnormal nephron morphology 58 159 1.39023534255266 0.0302835519018232 |
| Abnormality of the calvaria 240 740 1.1693023255813952 0.0313086484117594 |
| Abnormal anterior eye segment morphology 282 877 1.1558423517008278 0.0312629002115974 |
| Visual impairment 262 812 1.1610709290709291 0.0318302291057433 |
| Paraplegia 48 129 1.4337761674718197 0.0322394564829048 |
| Hepatosplenomegaly 36 93 1.5270279894594403 0.0324654526489023 |
| Dyscalculia 11 22 2.412948674941295 0.0329924613079947 |
| Abnormal aggressive impulsive or violent behavior 96 278 1.278975168477931 0.0328807176657387 |
| Myoclonus 89 256 1.2918558336307062 0.0329059555845485 |
| Skin vesicle 11 22 2.412948674941295 0.0329924613079947 |
| Increased circulating lactate dehydrogenase concentration 14 30 2.111987911349899 0.0332400846969684 |
| Congenital hip dislocation 24 58 1.7052481369906454 0.033256830211533 |
| Lack of skin elasticity 14 30 2.111987911349899 0.0332400846969684 |
| Abnormality of lipoprotein cholesterol concentration 14 30 2.111987911349899 0.0332400846969684 |
| Coarse hair 18 41 1.8896815882576528 0.0332900553899407 |
| Absent toenail 7 12 3.37641541038526 0.0342504172831639 |
| Anisocytosis 7 12 3.37641541038526 0.0342504172831639 |
| Central hypoventilation 7 12 3.37641541038526 0.0342504172831639 |
| Head titubation 7 12 3.37641541038526 0.0342504172831639 |
| Upper limb muscle weakness 25 61 1.677714114518968 0.0340947392426492 |
| Increased intramyocellular lipid droplets 7 12 3.37641541038526 0.0342504172831639 |
| Biliary cirrhosis 7 12 3.37641541038526 0.0342504172831639 |
| Biliary tract abnormality 26 64 1.6530858501614791 0.0348301769420466 |
| Abnormal glycosylation 19 44 1.835196770938446 0.034996089893468 |
| Myopia 98 285 1.270683582850744 0.03502215689765 |
| Abnormal peripheral action potential amplitude 9 17 2.713878645658733 0.0349998873515762 |
| Abnormal tricuspid valve physiology 19 44 1.835196770938446 0.034996089893468 |
| Spastic paraparesis 19 44 1.835196770938446 0.034996089893468 |
| Type i transferrin isoform profile 9 17 2.713878645658733 0.0349998873515762 |
| Acetabular dysplasia 9 17 2.713878645658733 0.0349998873515762 |
| Death in infancy 57 157 1.3796524701873936 0.0345581772617831 |
| Abnormal globus pallidus morphology 9 17 2.713878645658733 0.0349998873515762 |
| Ectopic calcification 54 148 1.3902205871703142 0.0354231415403405 |
| Aplasia hypoplasia of the skin 53 145 1.394055949228516 0.0356979623588386 |
| Disproportionate tall stature 28 70 1.6108861898335582 0.0360277393062833 |
| Renal agenesis 51 139 1.402259590120862 0.0362225893972554 |
| Abnormal circulating proteinogenic amino acid derivative concentration 20 47 1.7887941777578389 0.0365027488929601 |
| Diminished movement 20 47 1.7887941777578389 0.0365027488929601 |
| Abnormal autonomic nervous system physiology 30 76 1.5760502598127 0.0369108528805797 |
| Aplasia hypoplasia of the nails 62 173 1.352169234080497 0.0370989597466477 |
| Intellectual disability moderate 70 198 1.3243283709787816 0.0378775355940661 |
| Abnormal renal morphology 235 727 1.1628345880847275 0.0376682711342643 |
| Motor neuron atrophy 21 50 1.7488016341879549 0.037828282840152 |
| Arachnodactyly 33 85 1.533886188161281 0.0377558398238099 |
| Cardiomegaly 34 88 1.5219242230736485 0.0379305201856257 |
| Abnormal retinal artery morphology 21 50 1.7488016341879549 0.037828282840152 |
| Feeding difficulties in infancy 150 452 1.206244087038789 0.0384955896897531 |
| Hirsutism 56 155 1.3688657694107285 0.0393763307762026 |
| Abnormal peripheral nervous system morphology 143 430 1.209704976255499 0.0398459041136109 |
| Neoplasm 203 624 1.1727008633339835 0.0401877284106834 |
| Decreased muscle mass 17 39 1.8654545454545453 0.0407891595930028 |
| Ragged red muscle fibers 17 39 1.8654545454545453 0.0407891595930028 |
| Hypokinesia 13 28 2.0914624594382905 0.0413200945722209 |
| Decreased absent ankle reflexes 13 28 2.0914624594382905 0.0413200945722209 |
| Abnormality of prothrombin 13 28 2.0914624594382905 0.0413200945722209 |
| Titubation 10 20 2.412474849094568 0.0414168787325853 |
| Oral cleft 154 466 1.1986682568077918 0.0415995659694639 |
| Malabsorption 49 134 1.3944594351502069 0.0418186137414428 |
| Broad nasal tip 46 125 1.4082600737322435 0.0427285278928467 |
| Equinovarus deformity 6 10 3.6168787675820497 0.0426244477944975 |
| Camptodactyly of toe 6 10 3.6168787675820497 0.0426244477944975 |
| Autoamputation 6 10 3.6168787675820497 0.0426244477944975 |
| Proximal muscle weakness in lower limbs 18 42 1.8106926698049768 0.0426980015714525 |
| Cerebral white matter hypoplasia 6 10 3.6168787675820497 0.0426244477944975 |
| Glomerulonephritis 18 42 1.8106926698049768 0.0426980015714525 |
| Macrovesicular hepatic steatosis 6 10 3.6168787675820497 0.0426244477944975 |
| Limb tremor 6 10 3.6168787675820497 0.0426244477944975 |
| Persistence of primary teeth 6 10 3.6168787675820497 0.0426244477944975 |
| Perimembranous ventricular septal defect 6 10 3.6168787675820497 0.0426244477944975 |
| Abnormal circulating fatty acid concentration 18 42 1.8106926698049768 0.0426980015714525 |
| Abnormal renal physiology 152 460 1.1983171757819646 0.0428662477593297 |
| Hyperlipidemia 28 71 1.5732040297523773 0.0432865059687855 |
| Psychomotor retardation 33 86 1.5047345163779196 0.0444826016167247 |
| Choreoathetosis 32 83 1.5162692103868574 0.0443662248782765 |
| Periventricular white matter hyperintensities 8 15 2.7564151666028343 0.044079179115471 |
| Abnormality of bone mineral density 127 380 1.2178838234381144 0.0438208547129731 |
| Abnormal circulating aspartate family amino acid concentration 8 15 2.7564151666028343 0.044079179115471 |
| Platyspondyly 32 83 1.5162692103868574 0.0443662248782765 |
| Hyperuricemia 8 15 2.7564151666028343 0.044079179115471 |
| Small hand 29 74 1.557063036712041 0.0436610365965842 |
| Limb girdle muscular dystrophy 8 15 2.7564151666028343 0.044079179115471 |
| Tetraparesis 33 86 1.5047345163779196 0.0444826016167247 |
| Abnormality of the peritoneum 19 45 1.764366477787265 0.0443550068216595 |
| Global brain atrophy 19 45 1.764366477787265 0.0443550068216595 |
| Cholecystitis 8 15 2.7564151666028343 0.044079179115471 |
| Abnormal motor nerve conduction velocity 19 45 1.764366477787265 0.0443550068216595 |
| Slender finger 38 101 1.458114367389926 0.0443940221689401 |
| Megaloblastic anemia 8 15 2.7564151666028343 0.044079179115471 |
| Limb hypertonia 34 89 1.4940438871473354 0.0445485578601583 |
| Abnormal adipose tissue morphology 55 153 1.3578689902927463 0.0447959162394344 |
| Myoclonic seizure 53 147 1.3640114961667378 0.0457019496290623 |
| Overlapping toe 20 48 1.7246683330128822 0.0457873144341963 |
| Severe global developmental delay 63 178 1.325892499294907 0.045863630721368 |
| Lissencephaly 50 138 1.3742970150176133 0.0470249845307921 |
| Cavum septum pellucidum 11 23 2.211562115621156 0.0468617193115226 |
| Toe walking 21 51 1.6902726354762707 0.0470192205626804 |
| Abnormal delivery 21 51 1.6902726354762707 0.0470192205626804 |
| Pseudobulbar signs 11 23 2.211562115621156 0.0468617193115226 |
| Middle age onset 11 23 2.211562115621156 0.0468617193115226 |
| Abnormality of the intrinsic pathway 11 23 2.211562115621156 0.0468617193115226 |
| Abnormality of alkaline phosphatase level 21 51 1.6902726354762707 0.0470192205626804 |
| Atrophy degeneration affecting the brainstem 11 23 2.211562115621156 0.0468617193115226 |
| Back pain 22 54 1.6601851851851852 0.0480723448429749 |
| Horizontal nystagmus 22 54 1.6601851851851852 0.0480723448429749 |
| Hypotension 24 60 1.610062893081761 0.0497167664967948 |
| Nasogastric tube feeding 24 60 1.610062893081761 0.0497167664967948 |
| Aplasia hypoplasia of the nipples 16 37 1.8389656938044037 0.0499879449351923 |
| Infantile spasms 31 81 1.497966903073286 0.0520520792172998 |
| Autoimmune hemolytic anemia 9 18 2.412001340931948 0.0521783730098097 |
| Hammertoe 17 40 1.7840993788819877 0.0520882078232365 |
| Abnormal upper motor neuron morphology 9 18 2.412001340931948 0.0521783730098097 |
| Abnormal facial shape 280 881 1.1343189080146658 0.0529802430588368 |
| Oligosacchariduria 5 8 4.017966744782949 0.0529510093835772 |
| Testicular atrophy 5 8 4.017966744782949 0.0529510093835772 |
| Scleroderma 5 8 4.017966744782949 0.0529510093835772 |
| Skeletal myopathy 5 8 4.017966744782949 0.0529510093835772 |
| Psychosis 29 75 1.5230010711822624 0.0518028609173888 |
| Postural tremor 17 40 1.7840993788819877 0.0520882078232365 |
| Abnormal circulating branched chain amino acid concentration 5 8 4.017966744782949 0.0529510093835772 |
| Abnormal pineal morphology 5 8 4.017966744782949 0.0529510093835772 |
| Unusual infection 190 586 1.1657618295733927 0.0515474954599624 |
| Increased urine alpha ketoglutarate concentration 5 8 4.017966744782949 0.0529510093835772 |
| Abnormal circulating aromatic amino acid concentration 5 8 4.017966744782949 0.0529510093835772 |
| Abnormal periventricular white matter morphology 36 96 1.4500676589986468 0.0517168556895074 |
| Ketoacidosis 9 18 2.412001340931948 0.0521783730098097 |
| Decreased circulating antibody level 40 108 1.421967160848079 0.0507710328475538 |
| Prominent superficial blood vessels 12 26 2.068072866730585 0.0514560646025798 |
| Coarctation of aorta 35 93 1.4583163271255817 0.0518723746107631 |
| Hepatoblastoma 9 18 2.412001340931948 0.0521783730098097 |
| Retrognathia 77 223 1.276970793486689 0.0515653347932108 |
| Neuronal loss in basal ganglia 5 8 4.017966744782949 0.0529510093835772 |
| Chronic infection 9 18 2.412001340931948 0.0521783730098097 |
| Fever 78 226 1.2761505500009276 0.0508433526698111 |
| Premature birth 40 108 1.421967160848079 0.0507710328475538 |
| Decreased activity of mitochondrial complex ii 5 8 4.017966744782949 0.0529510093835772 |
| Glutaric aciduria 5 8 4.017966744782949 0.0529510093835772 |
| Increased ldl cholesterol concentration 9 18 2.412001340931948 0.0521783730098097 |
| Ketosis 17 40 1.7840993788819877 0.0520882078232365 |
| Coarse facial features 62 176 1.316028980300581 0.0516921495131202 |
| Osteolysis involving bones of the feet 5 8 4.017966744782949 0.0529510093835772 |
| Skin ulcer 28 72 1.537234695129432 0.0515706406328507 |
| Abnormal circulating copper concentration 5 8 4.017966744782949 0.0529510093835772 |
| Abnormal exteroceptive sensation 50 139 1.3586645177552532 0.053093745842715 |
| Neoplasm by histology 93 274 1.244740518258344 0.0532979203356685 |
| Resting tremor 18 43 1.738022864828514 0.0538741301914946 |
| Attention deficit hyperactivity disorder 92 271 1.2450394914274707 0.054097863572661 |
| Abnormal aortic morphology 102 303 1.229675153643547 0.0548108725243156 |
| Hypoparathyroidism 13 29 1.9604733131923464 0.0553202123643769 |
| Small basal ganglia 7 13 2.813288665549972 0.0557597234463358 |
| Abnormality of the zygomatic bone 65 186 1.2999376000587293 0.0551652731344135 |
| Abnormal sternum morphology 107 319 1.2232170301821392 0.0549493497099887 |
| Muscle fiber atrophy 19 46 1.6987828730176526 0.0553848406175808 |
| Neutropenia in presence of anti neutropil antibodies 7 13 2.813288665549972 0.0557597234463358 |
| Abnormal blood ion concentration 65 186 1.2999376000587293 0.0551652731344135 |
| Decreased activity of mitochondrial complex iii 7 13 2.813288665549972 0.0557597234463358 |
| Hypoglycemic seizures 7 13 2.813288665549972 0.0557597234463358 |
| Oval face 7 13 2.813288665549972 0.0557597234463358 |
| Neonatal death 13 29 1.9604733131923464 0.0553202123643769 |
| Severe infection 7 13 2.813288665549972 0.0557597234463358 |
| Abnormality of vitamin b metabolism 13 29 1.9604733131923464 0.0553202123643769 |
| Abnormal external genitalia 269 846 1.1346078816373266 0.055979324027491 |
| Clumsiness 20 49 1.664964960319302 0.0566542426253707 |
| Lipoatrophy 20 49 1.664964960319302 0.0566542426253707 |
| High anterior hairline 20 49 1.664964960319302 0.0566542426253707 |
| Ophthalmoparesis 70 202 1.283471262937382 0.0568911973355597 |
| Recurrent respiratory infections 114 342 1.211952744961779 0.0574469362154778 |
| Generalized onset motor seizure 53 149 1.335218895315867 0.0576912564564445 |
| Abnormality of the ankles 41 112 1.3958171257296406 0.0576937008206224 |
| Secondary amenorrhea 14 32 1.8768002387881504 0.0585616848881561 |
| Constipation 92 272 1.2379463601532568 0.0587987853759996 |
| Abnormal brain lactate level by mrs 10 21 2.192854094262545 0.0588029297437419 |
| Cerebral visual impairment 61 174 1.305999643723034 0.0581680978202649 |
| Stillbirth 10 21 2.192854094262545 0.0588029297437419 |
| Periventricular leukomalacia 14 32 1.8768002387881504 0.0585616848881561 |
| Impaired smooth pursuit 14 32 1.8768002387881504 0.0585616848881561 |
| Lower limb muscle weakness 40 109 1.4011625623502613 0.0581400708046865 |
| Myoglobinuria 10 21 2.192854094262545 0.0588029297437419 |
| Abnormality of the adrenal glands 52 146 1.3378202344767691 0.0583690382307688 |
| Abnormal caudate nucleus morphology 10 21 2.192854094262545 0.0588029297437419 |
| Neonatal hypotonia 51 143 1.3405378235737622 0.0590471033070565 |
| Abnormal blood inorganic cation concentration 36 97 1.426096408527252 0.059697919951667 |
| Thin skin 24 61 1.5663291323668682 0.0598499733658367 |
| Aspiration pneumonia 24 61 1.5663291323668682 0.0598499733658367 |
| Dysphonia 33 88 1.4496113551875631 0.0605378621321193 |
| Multifocal epileptiform discharges 27 70 1.5165065296678302 0.0608177127380096 |
| Widely spaced teeth 31 82 1.4683897199541756 0.0608787119456684 |
| Abnormality of the middle ear 124 375 1.1976806859035267 0.0611269510108107 |
| Focal onset seizure 78 228 1.2587783115991764 0.0610617485005425 |
| Diffuse cerebral atrophy 15 35 1.8098757138058448 0.0612728255048885 |
| Abnormality of malar bones 56 159 1.3149652125605142 0.0620748628927066 |
| Right ventricular cardiomyopathy 4 6 4.820615796519411 0.0653336134985966 |
| Semilobar holoprosencephaly 4 6 4.820615796519411 0.0653336134985966 |
| Limitation of movement at ankles 4 6 4.820615796519411 0.0653336134985966 |
| Hyperkinetic movements 11 24 2.041158103888731 0.064209277193306 |
| Caesarian section 4 6 4.820615796519411 0.0653336134985966 |
| Cataplexy 4 6 4.820615796519411 0.0653336134985966 |
| Granulocytopenia 4 6 4.820615796519411 0.0653336134985966 |
| Abnormal circulating porphyrin concentration 4 6 4.820615796519411 0.0653336134985966 |
| Malrotation of small bowel 4 6 4.820615796519411 0.0653336134985966 |
| Hypoplastic pubic rami 4 6 4.820615796519411 0.0653336134985966 |
| Mitral valve calcification 4 6 4.820615796519411 0.0653336134985966 |
| Increased level of hippuric acid in urine 4 6 4.820615796519411 0.0653336134985966 |
| Pollakisuria 4 6 4.820615796519411 0.0653336134985966 |
| Bloodstream infectious agent 4 6 4.820615796519411 0.0653336134985966 |
| Personality changes 16 38 1.7551319648093842 0.0635316288893384 |
| Abnormality of temperature regulation 97 289 1.2236686816350029 0.0639967789356604 |
| Elevated gamma glutamyltransferase level 4 6 4.820615796519411 0.0653336134985966 |
| Elevated circulating glutaric acid concentration 4 6 4.820615796519411 0.0653336134985966 |
| Axonal regeneration 4 6 4.820615796519411 0.0653336134985966 |
| Limb joint contracture 97 289 1.2236686816350029 0.0639967789356604 |
| Lower eyelid coloboma 4 6 4.820615796519411 0.0653336134985966 |
| Ketonuria 11 24 2.041158103888731 0.064209277193306 |
| Ulnar claw 4 6 4.820615796519411 0.0653336134985966 |
| Decerebrate rigidity 4 6 4.820615796519411 0.0653336134985966 |
| Hypersplenism 8 16 2.4115281501340484 0.0660229564567453 |
| Hypolipoproteinemia 8 16 2.4115281501340484 0.0660229564567453 |
| Skin erosion 8 16 2.4115281501340484 0.0660229564567453 |
| Abnormal circulating sulfur amino acid concentration 8 16 2.4115281501340484 0.0660229564567453 |
| Abnormality of the septum pellucidum 40 110 1.380952380952381 0.0662566159400546 |
| Deeply set eye 66 191 1.2774135338345864 0.0663053460687725 |
| Premature skin wrinkling 18 44 1.6709430448502405 0.0669435427057893 |
| Pulmonary fibrosis 19 47 1.63788381144587 0.0681976885719177 |
| Severe postnatal growth retardation 12 27 1.9299328859060405 0.0686169685330476 |
| Thoracic scoliosis 12 27 1.9299328859060405 0.0686169685330476 |
| Gonadal dysgenesis 12 27 1.9299328859060405 0.0686169685330476 |
| Protruding tongue 12 27 1.9299328859060405 0.0686169685330476 |
| Sparse scalp hair 33 89 1.4235262878385555 0.0699601307197011 |
| Generalized abnormality of skin 203 634 1.143803257577207 0.0699971083627594 |
| Hypertriglyceridemia 21 53 1.584188825311343 0.0699980218675424 |
| Thickened skin 91 271 1.224068328928722 0.0701808173434341 |
| Hypointensity of cerebral white matter on mri 6 11 2.89310113864702 0.0709300512347036 |
| Abnormal liver physiology 6 11 2.89310113864702 0.0709300512347036 |
| Volvulus 6 11 2.89310113864702 0.0709300512347036 |
| Dysesthesia 6 11 2.89310113864702 0.0709300512347036 |
| Impaired temperature sensation 6 11 2.89310113864702 0.0709300512347036 |
| Thoracic kyphoscoliosis 6 11 2.89310113864702 0.0709300512347036 |
| Mild microcephaly 6 11 2.89310113864702 0.0709300512347036 |
| Cardiac arrest 29 77 1.4591348858139273 0.0712806200362281 |
| Hypoplasia of the brainstem 28 74 1.4699876782256645 0.0714652018405178 |
| Constitutional symptom 216 677 1.1381159864221997 0.0714674383723936 |
| Abnormal neuron morphology 26 68 1.494814243971358 0.0716014804444742 |
| Primary amenorrhea 26 68 1.494814243971358 0.0716014804444742 |
| Small nail 44 123 1.346117513697336 0.0718971670147346 |
| Rhabdomyolysis 13 30 1.844894654740043 0.0722050158742678 |
| Trigonocephaly 13 30 1.844894654740043 0.0722050158742678 |
| Acute lymphoblastic leukemia 13 30 1.844894654740043 0.0722050158742678 |
| Puberty and gonadal disorders 147 452 1.1687493157394335 0.072470158282759 |
| Abnormal leukocyte physiology 59 170 1.2854255551152929 0.0732889987111594 |
| Dyskinesia 65 189 1.267950229784983 0.0739895755279462 |
| Fat malabsorption 9 19 2.17049949715052 0.0740371436661412 |
| Truncus arteriosus 9 19 2.17049949715052 0.0740371436661412 |
| Colpocephaly 9 19 2.17049949715052 0.0740371436661412 |
| Aplasia hypoplasia involving bones of the upper limbs 129 394 1.1798298393952775 0.0740612394923039 |
| Kyphoscoliosis 51 145 1.3116467839134178 0.0737859835970873 |
| Myositis 9 19 2.17049949715052 0.0740371436661412 |
| Athetosis 14 33 1.7777738503410978 0.075117199915713 |
| Abnormal tissue metabolite concentration 14 33 1.7777738503410978 0.075117199915713 |
| Abnormality of extrapyramidal motor function 70 205 1.2544173194412755 0.0752611601749179 |
| Exercise induced rhabdomyolysis 3 4 7.229508196721311 0.0787917742419087 |
| Dysplasia of the femoral head 3 4 7.229508196721311 0.0787917742419087 |
| Abnormality of taste sensation 3 4 7.229508196721311 0.0787917742419087 |
| Large placenta 3 4 7.229508196721311 0.0787917742419087 |
| Thoracic kyphosis 15 36 1.7234512212678152 0.077468777954293 |
| Digenic inheritance 3 4 7.229508196721311 0.0787917742419087 |
| Abnormal circulating apolipoprotein concentration 3 4 7.229508196721311 0.0787917742419087 |
| Thin clavicles 3 4 7.229508196721311 0.0787917742419087 |
| Decreased patellar reflex 3 4 7.229508196721311 0.0787917742419087 |
| Elevated urinary monocarboxylic acid level 3 4 7.229508196721311 0.0787917742419087 |
| Abnormal cutaneous elastic fiber morphology 3 4 7.229508196721311 0.0787917742419087 |
| Abnormality of bone marrow cell morphology 49 139 1.3160644844640768 0.0757535937132297 |
| Respiratory paralysis 3 4 7.229508196721311 0.0787917742419087 |
| Abnormal circulating serine concentration 3 4 7.229508196721311 0.0787917742419087 |
| Total anomalous pulmonary venous return 3 4 7.229508196721311 0.0787917742419087 |
| Abnormal protein glycosylation 15 36 1.7234512212678152 0.077468777954293 |
| Abnormality of the gastric mucosa 15 36 1.7234512212678152 0.077468777954293 |
| Peripheral edema 3 4 7.229508196721311 0.0787917742419087 |
| Lactose intolerance 3 4 7.229508196721311 0.0787917742419087 |
| Fulminant hepatic failure 3 4 7.229508196721311 0.0787917742419087 |
| Bone marrow foam cells 3 4 7.229508196721311 0.0787917742419087 |
| Poikilocytosis 15 36 1.7234512212678152 0.077468777954293 |
| Proximal symphalangism 3 4 7.229508196721311 0.0787917742419087 |
| Porphyrinuria 3 4 7.229508196721311 0.0787917742419087 |
| Severe cytomegalovirus infection 3 4 7.229508196721311 0.0787917742419087 |
| Loss of eyelashes 3 4 7.229508196721311 0.0787917742419087 |
| Long palm 3 4 7.229508196721311 0.0787917742419087 |
| Prominent veins on trunk 3 4 7.229508196721311 0.0787917742419087 |
| Abnormality of cardiovascular system electrophysiology 105 317 1.199521603022005 0.0763186826811014 |
| Arthritis 39 108 1.3656708726571356 0.0759450439919888 |
| Short umbilical cord 3 4 7.229508196721311 0.0787917742419087 |
| Decreased adipose tissue 15 36 1.7234512212678152 0.077468777954293 |
| Eeg with focal epileptiform discharges 36 99 1.3804368838198338 0.0782461694089837 |
| Asymmetry of the ears 3 4 7.229508196721311 0.0787917742419087 |
| Early onset absence seizures 3 4 7.229508196721311 0.0787917742419087 |
| Sea blue histiocytosis 3 4 7.229508196721311 0.0787917742419087 |
| Lack of peer relationships 3 4 7.229508196721311 0.0787917742419087 |
| Moderately reduced visual acuity 3 4 7.229508196721311 0.0787917742419087 |
| Increased nuchal translucency 16 39 1.6785881252921926 0.0793524770953423 |
| Hyporeflexia of lower limbs 10 22 2.009836798569193 0.0803116534394179 |
| Abnormality of vitamin d metabolism 10 22 2.009836798569193 0.0803116534394179 |
| Abnormal lumbar spine morphology 10 22 2.009836798569193 0.0803116534394179 |
| Abnormal vascular morphology 211 663 1.133379792714787 0.0805334413231025 |
| Abnormality of skin physiology 87 260 1.2171500203953718 0.0807947439571759 |
| Prolonged neonatal jaundice 17 42 1.6409142857142858 0.080843349473322 |
| Poor speech 82 244 1.224903483093632 0.0807045290159059 |
| High forehead 86 257 1.217159094110592 0.0820710367191333 |
| Abnormal talus morphology 18 45 1.6088321004259134 0.0820025666264636 |
| Hyperintensity of cerebral white matter on mri 18 45 1.6088321004259134 0.0820025666264636 |
| Abnormality of fontanelles 43 121 1.3321247532844684 0.0817943580386319 |
| Impaired pain sensation 18 45 1.6088321004259134 0.0820025666264636 |
| Impaired vibratory sensation 28 75 1.4385103511643265 0.0831789368570426 |
| Abnormality of the upper arm 20 51 1.5571137064212217 0.0835182127513684 |
| Hoarse voice 27 72 1.4487015177065767 0.0835784135555542 |
| Polymicrogyria 74 219 1.2345867504904162 0.0842157422725862 |
| Muscular dystrophy 24 63 1.485589881816297 0.0842837896352689 |
| Focal myoclonic seizure 7 14 2.411055276381909 0.0839960250534356 |
| Speech apraxia 24 63 1.485589881816297 0.0842837896352689 |
| Epileptic encephalopathy 25 66 1.4720872689010005 0.0841429306525995 |
| Abnormality of head blood vessel 23 60 1.5005598390576498 0.0843109681855401 |
| Chordee 7 14 2.411055276381909 0.0839960250534356 |
| Irregular capital femoral epiphysis 2 2 inf 0.0860916329291088 |
| Hypovolemic shock 2 2 inf 0.0860916329291088 |
| Cerebellar vermis atrophy 11 25 1.8950975224037956 0.085232751499923 |
| Increased proteinogenic amino acid level in urine 11 25 1.8950975224037956 0.085232751499923 |
| Second degree atrioventricular block 2 2 inf 0.0860916329291088 |
| Uncombable hair 2 2 inf 0.0860916329291088 |
| Eeg with frontal epileptiform discharges 2 2 inf 0.0860916329291088 |
| Symphalangism of middle phalanx of finger 2 2 inf 0.0860916329291088 |
| Temporal optic disc pallor 2 2 inf 0.0860916329291088 |
| Reduced renal corticomedullary differentiation 2 2 inf 0.0860916329291088 |
| Abnormal circulating gaba concentration 2 2 inf 0.0860916329291088 |
| Retinal perforation 2 2 inf 0.0860916329291088 |
| Hypertrophic nerve changes 2 2 inf 0.0860916329291088 |
| Onycholysis 5 9 3.013056578506863 0.0908870652447265 |
| Abnormality of neutrophil morphology 5 9 3.013056578506863 0.0908870652447265 |
| Talipes calcaneovalgus 5 9 3.013056578506863 0.0908870652447265 |
| Abnormality of the fontanelles or cranial sutures 103 313 1.187397188020241 0.0906285768734453 |
| Prominent nasolabial fold 5 9 3.013056578506863 0.0908870652447265 |
| Type i diabetes mellitus 12 28 1.809060402684564 0.0890896240027276 |
| Short nail 5 9 3.013056578506863 0.0908870652447265 |
| Abnormality of vitamin a metabolism 5 9 3.013056578506863 0.0908870652447265 |
| Regional abnormality of skin 125 384 1.1691084676784014 0.0894148981136493 |
| Abnormality of vitamin k metabolism 5 9 3.013056578506863 0.0908870652447265 |
| Abnormal dentin morphology 5 9 3.013056578506863 0.0908870652447265 |
| Abnormality of the nasal skeleton 5 9 3.013056578506863 0.0908870652447265 |
| Abnormality of cranial sutures 85 255 1.2098383212934296 0.0900861509190974 |
| Abnormality of the pineal gland 5 9 3.013056578506863 0.0908870652447265 |
| Abnormality of lysosomal metabolism 5 9 3.013056578506863 0.0908870652447265 |
| Abnormal bone structure 163 508 1.1455033529541343 0.0905042792526262 |
| Distal sensory impairment of all modalities 5 9 3.013056578506863 0.0908870652447265 |
| Arthrogryposis multiplex congenita 34 94 1.3685823754789272 0.0908306646623441 |
| Carcinoma 5 9 3.013056578506863 0.0908870652447265 |
| Multifactorial inheritance 12 28 1.809060402684564 0.0890896240027276 |
| Reduced natural killer cell count 5 9 3.013056578506863 0.0908870652447265 |
| Branchial fistula 5 9 3.013056578506863 0.0908870652447265 |
| Slender build 12 28 1.809060402684564 0.0890896240027276 |
| Osteomyelitis 13 31 1.7421580694491068 0.0920999405954175 |
| Mania 13 31 1.7421580694491068 0.0920999405954175 |
| Cns demyelination 13 31 1.7421580694491068 0.0920999405954175 |
| Thick nasal alae 13 31 1.7421580694491068 0.0920999405954175 |
| Absent septum pellucidum 32 88 1.37992277992278 0.0927136360821737 |
| Tooth malposition 88 265 1.2030474233864064 0.0926417454115566 |
| Pancytopenia 32 88 1.37992277992278 0.0927136360821737 |
| Low posterior hairline 32 88 1.37992277992278 0.0927136360821737 |
| Normocytic anemia 8 17 2.143282692880548 0.0935990178830584 |
| Aplasia hypoplasia of the cerebral white matter 8 17 2.143282692880548 0.0935990178830584 |
| Abnormality of the tonsils 8 17 2.143282692880548 0.0935990178830584 |
| Atrophy degeneration involving the spinal cord 8 17 2.143282692880548 0.0935990178830584 |
| Upper limb spasticity 8 17 2.143282692880548 0.0935990178830584 |
| Hypoplastic fingernail 15 37 1.6448835007786973 0.0962057095566069 |
| Dermal atrophy 27 73 1.4170100447246865 0.0968634152979354 |
| Abnormality of thalamus morphology 16 40 1.6084229390681004 0.097528656607084 |
| Elbow flexion contracture 25 67 1.436836952509349 0.0981561801909908 |
| Tachycardia 25 67 1.436836952509349 0.0981561801909908 |
| Tonic seizure 25 67 1.436836952509349 0.0981561801909908 |
| Hernia 127 392 1.1607270571964832 0.0980514013499553 |
| Redundant skin 24 64 1.4482479784366578 0.0986846518520349 |
| Pruritus 22 58 1.474897119341564 0.0994344464179067 |
| Abnormality of ocular smooth pursuit 19 49 1.528265500616661 0.0994902139088827 |
| Premature ovarian insufficiency 19 49 1.528265500616661 0.0994902139088827 |
| Ventricular arrhythmia 36 101 1.3375871760174871 0.1004418760618241 |
| Exercise induced myalgia 9 20 1.9729070795111692 0.1007264513385376 |
| Entropion 9 20 1.9729070795111692 0.1007264513385376 |
| Sinus tachycardia 9 20 1.9729070795111692 0.1007264513385376 |
| Hypoplasia of the uterus 9 20 1.9729070795111692 0.1007264513385376 |
| Parkinsonism with favorable response to dopaminergic medication 9 20 1.9729070795111692 0.1007264513385376 |
| Hyperlipoproteinemia 9 20 1.9729070795111692 0.1007264513385376 |
| Brain imaging abnormality 35 98 1.3416375455604403 0.1017111848717696 |
| Cirrhosis 34 95 1.3459581684567552 0.102977109479789 |
| Difficulty walking 71 212 1.2175782606267649 0.1041808559140138 |
| Glomerulopathy 10 23 1.8549760099055876 0.1060423719973359 |
| Increased muscle lipid content 10 23 1.8549760099055876 0.1060423719973359 |
| Late onset 10 23 1.8549760099055876 0.1060423719973359 |
| Narrow mouth 65 193 1.2276328151691152 0.1056927821886653 |
| Abnormal circulating nucleobase concentration 10 23 1.8549760099055876 0.1060423719973359 |
| Eeg with burst suppression 10 23 1.8549760099055876 0.1060423719973359 |
| Progressive gait ataxia 10 23 1.8549760099055876 0.1060423719973359 |
| Hypoplastic nipples 10 23 1.8549760099055876 0.1060423719973359 |
| Tics 6 12 2.4105827193569995 0.1076096851859126 |
| Spondyloepimetaphyseal dysplasia 6 12 2.4105827193569995 0.1076096851859126 |
| Abnormality of mouth shape 64 190 1.2278601786798509 0.1074152659464087 |
| Downslanted palpebral fissures 125 387 1.155222497650282 0.1073050242342649 |
| Toxemia of pregnancy 6 12 2.4105827193569995 0.1076096851859126 |
| Abnormality of lower limb joint 155 485 1.1380673139573387 0.1072880220425175 |
| Elevated urinary carboxylic acid 6 12 2.4105827193569995 0.1076096851859126 |
| Abnormal circulating acetylcarnitine concentration 6 12 2.4105827193569995 0.1076096851859126 |
| Abnormal circulating methionine concentration 6 12 2.4105827193569995 0.1076096851859126 |
| Unexplained fevers 6 12 2.4105827193569995 0.1076096851859126 |
| Alacrima 6 12 2.4105827193569995 0.1076096851859126 |
| Cupped ribs 6 12 2.4105827193569995 0.1076096851859126 |
| Abnormal nasal base 11 26 1.7685116851168512 0.1100023218906654 |
| Cortical dysplasia 28 77 1.37941006362059 0.1103164159931085 |
| Tongue atrophy 4 7 3.213297634984382 0.1176251287122746 |
| Bone pain 20 53 1.4623353317835148 0.1176165522258876 |
| Abnormal waist to hip ratio 7 15 2.1093802345058625 0.1189232652484941 |
| Desquamation of skin soon after birth 4 7 3.213297634984382 0.1176251287122746 |
| Heparan sulfate excretion in urine 4 7 3.213297634984382 0.1176251287122746 |
| Rimmed vacuoles 13 32 1.6502358615572164 0.1150471681839331 |
| Memory impairment 35 99 1.3204895164017585 0.1145436152011556 |
| Low apgar score 4 7 3.213297634984382 0.1176251287122746 |
| Abnormal epidermal morphology 17 44 1.518941798941799 0.118331512742049 |
| Abnormality of the palpebral fissures 201 638 1.115195377098831 0.1169408799739398 |
| Congenital nonbullous ichthyosiform erythroderma 4 7 3.213297634984382 0.1176251287122746 |
| Peripheral demyelination 15 38 1.5731477559842852 0.1175148926034944 |
| Eeg with abnormally slow frequencies 18 47 1.497460751802982 0.1183033729585572 |
| Increased adipose tissue 4 7 3.213297634984382 0.1176251287122746 |
| Pseudoepiphyses of the metacarpals 4 7 3.213297634984382 0.1176251287122746 |
| Increased hepatic glycogen content 4 7 3.213297634984382 0.1176251287122746 |
| Peroneal muscle atrophy 4 7 3.213297634984382 0.1176251287122746 |
| Type 1 muscle fiber atrophy 7 15 2.1093802345058625 0.1189232652484941 |
| Orofacial dyskinesia 7 15 2.1093802345058625 0.1189232652484941 |
| Difficulty running 13 32 1.6502358615572164 0.1150471681839331 |
| Generalized lipodystrophy 4 7 3.213297634984382 0.1176251287122746 |
| Low alkaline phosphatase 4 7 3.213297634984382 0.1176251287122746 |
| Cubitus valgus 13 32 1.6502358615572164 0.1150471681839331 |
| Axonal degeneration regeneration 4 7 3.213297634984382 0.1176251287122746 |
| Abnormal large intestine physiology 18 47 1.497460751802982 0.1183033729585572 |
| Abnormality of abdominal situs 4 7 3.213297634984382 0.1176251287122746 |
| Abducens palsy 4 7 3.213297634984382 0.1176251287122746 |
| Abnormal intestine morphology 179 565 1.1239655264510258 0.114104069471673 |
| Conjugated hyperbilirubinemia 4 7 3.213297634984382 0.1176251287122746 |
| Hypoplasia of the pons 20 53 1.4623353317835148 0.1176165522258876 |
| Narrow iliac wing 4 7 3.213297634984382 0.1176251287122746 |
| Developmental stagnation 7 15 2.1093802345058625 0.1189232652484941 |
| Limb ataxia 22 59 1.4348348348348348 0.1163117695355994 |
| Urinary glycosaminoglycan excretion 7 15 2.1093802345058625 0.1189232652484941 |
| Congenital contracture 40 115 1.287985546522132 0.1189563420997796 |
| Schistocytosis 4 7 3.213297634984382 0.1176251287122746 |
| Abnormal cartilage morphology 12 29 1.7024082116067905 0.1129268557499735 |
| Abnormality of the nasal bone 4 7 3.213297634984382 0.1176251287122746 |
| Loss of subcutaneous adipose tissue in limbs 4 7 3.213297634984382 0.1176251287122746 |
| Enlarged cisterna magna 16 41 1.5438709677419356 0.11808871472557 |
| Erythrocyte inclusion bodies 4 7 3.213297634984382 0.1176251287122746 |
| Abnormality of the cerebrospinal fluid 133 414 1.1461078768551332 0.1130481356085831 |
| Rib segmentation abnormalities 4 7 3.213297634984382 0.1176251287122746 |
| Triphalangeal thumb 22 59 1.4348348348348348 0.1163117695355994 |
| Abnormal circulating non proteinogenic amino acid concentration 7 15 2.1093802345058625 0.1189232652484941 |
| Scrotal hypoplasia 17 44 1.518941798941799 0.118331512742049 |
| Delayed ability to roll over 4 7 3.213297634984382 0.1176251287122746 |
| Carious teeth 41 118 1.2859695370708586 0.1171512557101924 |
| Slanting of the palpebral fissure 173 546 1.1238969193152173 0.1182385188183733 |
| Food allergy 4 7 3.213297634984382 0.1176251287122746 |
| Thickened ribs 4 7 3.213297634984382 0.1176251287122746 |
| Abnormal fingernail morphology 47 137 1.2614902848519147 0.1179860618292406 |
| Transient neutropenia 4 7 3.213297634984382 0.1176251287122746 |
| Confusion 18 47 1.497460751802982 0.1183033729585572 |
| Aortic regurgitation 23 62 1.423210784948744 0.1154896227865943 |
| Abnormality of the spleen 113 349 1.1588651897728142 0.1144149968709554 |
| Synostosis involving digits 4 7 3.213297634984382 0.1176251287122746 |
| Cutaneous photosensitivity 22 59 1.4348348348348348 0.1163117695355994 |
| Abnormality of the dentition 203 645 1.1135261507311367 0.1190651590497475 |
| Acute coronary syndrome 18 47 1.497460751802982 0.1183033729585572 |
| Sparse eyebrow 32 90 1.3319664492078285 0.1193482913097028 |
| Abnormality of the nasal tip 90 275 1.176653566040196 0.1192863204303379 |
| Abnormal hand morphology 98 301 1.1678621642875866 0.1198703044176139 |
| Abnormal atrioventricular valve physiology 46 134 1.2626365487872615 0.1198877157759963 |
| Tube feeding 62 185 1.218185854213491 0.1206808897160823 |
| Central nervous system cyst 51 150 1.2445261867227184 0.1215574633225469 |
| Abnormal distal phalanx morphology of finger 45 131 1.2638394583376078 0.1218231853620558 |
| Abnormal peripheral myelination 30 84 1.3410608447745518 0.1225688241262247 |
| Myalgia 38 109 1.2923703357586276 0.122643850702358 |
| Midface retrusion 75 227 1.1928711906609168 0.1230925733162739 |
| Abnormal pulmonary interstitial morphology 29 81 1.346140865546873 0.1241751120525398 |
| Aplasia hypoplasia of fingers 83 253 1.180559318949305 0.124694849738676 |
| Emg myopathic abnormalities 28 78 1.3516329284750337 0.1257733413043008 |
| Thick lower lip vermilion 43 125 1.2664317792720146 0.1257980747470686 |
| Abnormality of the thyroid gland 99 305 1.162501384325741 0.1257983584651983 |
| Primary gonadal insufficiency 8 18 1.928686327077748 0.1267355337838967 |
| Sparse lateral eyebrow 8 18 1.928686327077748 0.1267355337838967 |
| Nail dystrophy 27 75 1.3575885328836426 0.1273585329360163 |
| Nasal speech 35 100 1.2999921958325746 0.1283645242371641 |
| Apraxia 62 186 1.2081911262798637 0.130941177901208 |
| Neoplasm of the genitourinary tract 62 186 1.2081911262798637 0.130941177901208 |
| Episodic hyperhidrosis 9 21 1.8082467314783772 0.1321690925363765 |
| Spastic dysarthria 9 21 1.8082467314783772 0.1321690925363765 |
| Limb girdle muscle weakness 24 66 1.378898729303042 0.1319711711529297 |
| Abnormality of the cervical spine 100 309 1.1572925145757642 0.131842321180946 |
| Shallow orbits 9 21 1.8082467314783772 0.1321690925363765 |
| Dystrophic fingernails 9 21 1.8082467314783772 0.1321690925363765 |
| Sudden death 24 66 1.378898729303042 0.1319711711529297 |
| Absent facial hair 9 21 1.8082467314783772 0.1321690925363765 |
| Muscle fiber inclusion bodies 9 21 1.8082467314783772 0.1321690925363765 |
| Webbed neck 33 94 1.3059296727405691 0.1322985205452819 |
| Abnormality of digestive system morphology 223 714 1.1010754064309614 0.1345752548602992 |
| Stereotypy 65 196 1.1990105284570869 0.1347389198653668 |
| Abnormal ovarian physiology 22 60 1.3968810916179335 0.1348385492642502 |
| Metaphyseal dysplasia 10 24 1.7222381910510682 0.1359231540052867 |
| Upslanted palpebral fissure 78 238 1.1784317089910776 0.1353361505407206 |
| Vertebral hypoplasia 10 24 1.7222381910510682 0.1359231540052867 |
| Impaired t cell function 10 24 1.7222381910510682 0.1359231540052867 |
| Abnormality of vitamin b12 metabolism 10 24 1.7222381910510682 0.1359231540052867 |
| Right bundle branch block 10 24 1.7222381910510682 0.1359231540052867 |
| Bilateral cryptorchidism 10 24 1.7222381910510682 0.1359231540052867 |
| Abnormality of the pancreas 69 209 1.1910854796930743 0.1359703295568072 |
| Abnormal cd4 cd8 ratio 5 10 2.410110478741212 0.1391496826914957 |
| Abnormality of the tongue 88 271 1.16260970359331 0.1406989968703201 |
| Triangular face 36 104 1.2780386850274617 0.1408654140604383 |
| Phthisis bulbi 5 10 2.410110478741212 0.1391496826914957 |
| Nonketotic hypoglycemia 5 10 2.410110478741212 0.1391496826914957 |
| Cerebral inclusion bodies 13 33 1.567505874454515 0.1410016475580099 |
| Truncal obesity 15 39 1.507389989922741 0.1413664022961007 |
| Distal upper limb amyotrophy 13 33 1.567505874454515 0.1410016475580099 |
| Pterygium 11 27 1.6577490774907748 0.1384547523229692 |
| Pancreatitis 20 54 1.4191275433457369 0.1374199797550037 |
| Hypocalcemia 15 39 1.507389989922741 0.1413664022961007 |
| Demyelinating peripheral neuropathy 15 39 1.507389989922741 0.1413664022961007 |
| Abnormality of iron homeostasis 5 10 2.410110478741212 0.1391496826914957 |
| Abnormality of the nasolabial region 5 10 2.410110478741212 0.1391496826914957 |
| Hyperkeratosis 54 161 1.2190822162702073 0.1379872100179918 |
| Curly hair 11 27 1.6577490774907748 0.1384547523229692 |
| Abnormal muscle glycogen content 5 10 2.410110478741212 0.1391496826914957 |
| Mood swings 5 10 2.410110478741212 0.1391496826914957 |
| Inappropriate behavior 16 42 1.4842845326716294 0.1410089395013603 |
| Increased cerebral lipofuscin 5 10 2.410110478741212 0.1391496826914957 |
| Upper limb amyotrophy 16 42 1.4842845326716294 0.1410089395013603 |
| Abnormal lung lobation 13 33 1.567505874454515 0.1410016475580099 |
| Polyuria 5 10 2.410110478741212 0.1391496826914957 |
| Death in adulthood 14 36 1.5347090786983333 0.1413932994760308 |
| Distal arthrogryposis 5 10 2.410110478741212 0.1391496826914957 |
| Lower limb amyotrophy 17 45 1.4644897959183674 0.140388372880268 |
| Motor polyneuropathy 11 27 1.6577490774907748 0.1384547523229692 |
| Abnormality of metacarpal epiphyses 5 10 2.410110478741212 0.1391496826914957 |
| Fatigable weakness of swallowing muscles 12 30 1.607606263982103 0.1400747489990992 |
| Limb girdle muscle atrophy 11 27 1.6577490774907748 0.1384547523229692 |
| Periorbital fullness 18 48 1.447343644922663 0.1395571882428364 |
| Neuronal loss in central nervous system 12 30 1.607606263982103 0.1400747489990992 |
| Premature loss of teeth 12 30 1.607606263982103 0.1400747489990992 |
| Downturned corners of mouth 36 104 1.2780386850274617 0.1408654140604383 |
| Metatarsus adductus 13 33 1.567505874454515 0.1410016475580099 |
| Primary microcephaly 14 36 1.5347090786983333 0.1413932994760308 |
| Difficulty standing 5 10 2.410110478741212 0.1391496826914957 |
| Pathologic fracture 15 39 1.507389989922741 0.1413664022961007 |
| Aplasia hypoplasia of the femur 14 36 1.5347090786983333 0.1413932994760308 |
| Generalized hyperkeratosis 5 10 2.410110478741212 0.1391496826914957 |
| Calcinosis 5 10 2.410110478741212 0.1391496826914957 |
| Recurrent bronchopulmonary infections 5 10 2.410110478741212 0.1391496826914957 |
| Recurrent fractures 28 79 1.3249450927469504 0.142488164835997 |
| Renal hypoplasia aplasia 79 242 1.1714758676464083 0.1426699893539692 |
| Localized skin lesion 202 646 1.102328134586199 0.1435103935823878 |
| Non motor seizure 46 136 1.234230972316512 0.1448458240890323 |
| Autoimmunity 34 98 1.2823275862068966 0.145518447035106 |
| Osteoporosis 60 181 1.1978961135602584 0.1466517348950559 |
| Hypertelorism 184 587 1.1058302050857882 0.146965341210558 |
| Narrow nasal ridge 6 13 2.0659267055784136 0.1520525095367466 |
| Aplasia hypoplasia of the nasal bone 3 5 3.614252258280361 0.154468866094414 |
| Methylmalonic acidemia 6 13 2.0659267055784136 0.1520525095367466 |
| Elevated circulating long chain fatty acid concentration 3 5 3.614252258280361 0.154468866094414 |
| Small placenta 3 5 3.614252258280361 0.154468866094414 |
| Absence of subcutaneous fat 6 13 2.0659267055784136 0.1520525095367466 |
| Progressive leukoencephalopathy 3 5 3.614252258280361 0.154468866094414 |
| Psychotic episodes 3 5 3.614252258280361 0.154468866094414 |
| Decreased cd4 cd8 ratio 3 5 3.614252258280361 0.154468866094414 |
| Aplasia hypoplasia of the gallbladder 3 5 3.614252258280361 0.154468866094414 |
| Vitritis 3 5 3.614252258280361 0.154468866094414 |
| Upper limb postural tremor 3 5 3.614252258280361 0.154468866094414 |
| Abnormal circulating phenylalanine concentration 3 5 3.614252258280361 0.154468866094414 |
| Angular cheilitis 3 5 3.614252258280361 0.154468866094414 |
| Fibular aplasia 3 5 3.614252258280361 0.154468866094414 |
| Calcific stippling 3 5 3.614252258280361 0.154468866094414 |
| Irregular femoral epiphysis 3 5 3.614252258280361 0.154468866094414 |
| Increased serum iron 3 5 3.614252258280361 0.154468866094414 |
| Spastic ataxia 6 13 2.0659267055784136 0.1520525095367466 |
| Reduced systolic function 3 5 3.614252258280361 0.154468866094414 |
| Anarthria 6 13 2.0659267055784136 0.1520525095367466 |
| Bird like facies 6 13 2.0659267055784136 0.1520525095367466 |
| Impacted tooth 3 5 3.614252258280361 0.154468866094414 |
| Cerebellar cortical atrophy 3 5 3.614252258280361 0.154468866094414 |
| Generalized osteosclerosis 3 5 3.614252258280361 0.154468866094414 |
| Abnormal left atrium morphology 3 5 3.614252258280361 0.154468866094414 |
| Multiple prenatal fractures 6 13 2.0659267055784136 0.1520525095367466 |
| Abnormal mitochondrial number 3 5 3.614252258280361 0.154468866094414 |
| Lagopthalmos 3 5 3.614252258280361 0.154468866094414 |
| Left atrial enlargement 3 5 3.614252258280361 0.154468866094414 |
| Elevated urinary dicarboxylic acid level 3 5 3.614252258280361 0.154468866094414 |
| Ocular anterior segment dysgenesis 79 243 1.1641673574305258 0.1526311657512702 |
| Curly eyelashes 6 13 2.0659267055784136 0.1520525095367466 |
| Hypoplastic vertebral bodies 6 13 2.0659267055784136 0.1520525095367466 |
| Vertigo 23 64 1.353407980021195 0.152925939653127 |
| Gastric ulcer 3 5 3.614252258280361 0.154468866094414 |
| Acral ulceration 3 5 3.614252258280361 0.154468866094414 |
| Vitreous floaters 3 5 3.614252258280361 0.154468866094414 |
| Hypergalactosemia 3 5 3.614252258280361 0.154468866094414 |
| Increased megakaryocyte count 3 5 3.614252258280361 0.154468866094414 |
| Follicular hyperkeratosis 6 13 2.0659267055784136 0.1520525095367466 |
| Neuropathic arthropathy 3 5 3.614252258280361 0.154468866094414 |
| Submucous cleft soft palate 3 5 3.614252258280361 0.154468866094414 |
| Pointed chin 32 92 1.2872072072072072 0.1503320696567319 |
| Abnormal anterior horn cell morphology 6 13 2.0659267055784136 0.1520525095367466 |
| Large beaked nose 6 13 2.0659267055784136 0.1520525095367466 |
| Patchy changes of bone mineral density 3 5 3.614252258280361 0.154468866094414 |
| Ventricular hypertrophy 33 95 1.2846864132389977 0.147905078045857 |
| Abnormal brain choline level by mrs 3 5 3.614252258280361 0.154468866094414 |
| Nonspherocytic hemolytic anemia 3 5 3.614252258280361 0.154468866094414 |
| Short 1st metacarpal 6 13 2.0659267055784136 0.1520525095367466 |
| Deformed rib cage 3 5 3.614252258280361 0.154468866094414 |
| Arterial rupture 3 5 3.614252258280361 0.154468866094414 |
| Leukonychia 6 13 2.0659267055784136 0.1520525095367466 |
| Phocomelia 3 5 3.614252258280361 0.154468866094414 |
| Nonprogressive 6 13 2.0659267055784136 0.1520525095367466 |
| Craniofacial asymmetry 3 5 3.614252258280361 0.154468866094414 |
| Ineffective esophageal peristalsis 6 13 2.0659267055784136 0.1520525095367466 |
| Severe combined immunodeficiency 6 13 2.0659267055784136 0.1520525095367466 |
| Nephritis 22 61 1.3608736942070276 0.1549895576356088 |
| Sparse or absent eyelashes 22 61 1.3608736942070276 0.1549895576356088 |
| Abnormality of humoral immunity 52 156 1.2074829931972788 0.1553340268677242 |
| Abnormal urine cytology 36 105 1.2593398835088545 0.1562470752030403 |
| Abnormal choroid plexus morphology 7 16 1.8747440908244928 0.1600679498656452 |
| Inappropriate crying 7 16 1.8747440908244928 0.1600679498656452 |
| Wide cranial sutures 7 16 1.8747440908244928 0.1600679498656452 |
| Panniculitis 7 16 1.8747440908244928 0.1600679498656452 |
| Vascular dilatation 64 195 1.1801610144746173 0.159362540102943 |
| Pierre robin sequence 7 16 1.8747440908244928 0.1600679498656452 |
| Hip subluxation 7 16 1.8747440908244928 0.1600679498656452 |
| Cerebral dysmyelination 7 16 1.8747440908244928 0.1600679498656452 |
| Abnormal pancreas size 7 16 1.8747440908244928 0.1600679498656452 |
| Abnormal peristalsis 7 16 1.8747440908244928 0.1600679498656452 |
| Bruxism 7 16 1.8747440908244928 0.1600679498656452 |
| Impairment of activities of daily living 50 150 1.2073419442556084 0.160870268051492 |
| Diplopia 19 52 1.3887512868340317 0.1609591489547407 |
| Abnormality of the bladder 113 355 1.1291598609480449 0.161559970250355 |
| Lower limb hyperreflexia 18 49 1.400459899776558 0.1628218830168778 |
| Distal lower limb muscle weakness 18 49 1.400459899776558 0.1628218830168778 |
| Progressive inability to walk 18 49 1.400459899776558 0.1628218830168778 |
| Dilated cardiomyopathy 39 115 1.2386689717860515 0.1635859820413448 |
| Intellectual disability profound 44 131 1.220964144793275 0.1641183468843697 |
| Symptomatic seizures 8 19 1.7531074823300024 0.1650616356849966 |
| Colorectal polyposis 8 19 1.7531074823300024 0.1650616356849966 |
| Temperature instability 8 19 1.7531074823300024 0.1650616356849966 |
| Increased connective tissue 8 19 1.7531074823300024 0.1650616356849966 |
| Poor suck 26 74 1.306866711620589 0.1657313273532388 |
| Large basal ganglia 16 43 1.4291119076065313 0.1662130104516893 |
| Soft skin 9 22 1.6689187446813998 0.1680703965254052 |
| Aplasia hypoplasia of the humerus 9 22 1.6689187446813998 0.1680703965254052 |
| Abnormality of the 1st metacarpal 9 22 1.6689187446813998 0.1680703965254052 |
| Cerebral calcification 32 93 1.2659282233052724 0.1674292045594758 |
| Chronic lung disease 9 22 1.6689187446813998 0.1680703965254052 |
| Joint contractures involving the joints of the feet 9 22 1.6689187446813998 0.1680703965254052 |
| Hiatus hernia 9 22 1.6689187446813998 0.1680703965254052 |
| Abnormality of the achilles tendon 13 34 1.492654933742547 0.1698320938293969 |
| Xerostomia 14 37 1.4677781995503256 0.168898788989389 |
| Aplasia hypoplasia of the eyelid 12 31 1.5227834687389614 0.1703746279924336 |
| Dysplastic corpus callosum 12 31 1.5227834687389614 0.1703746279924336 |
| Generalized joint laxity 11 28 1.5600173648795312 0.1703968941761821 |
| Generalized hyperpigmentation 11 28 1.5600173648795312 0.1703968941761821 |
| Hypoventilation 12 31 1.5227834687389614 0.1703746279924336 |
| Advanced eruption of teeth 11 28 1.5600173648795312 0.1703968941761821 |
| Stomatitis 12 31 1.5227834687389614 0.1703746279924336 |
| Hand muscle weakness 10 25 1.6071987480438186 0.1697167556745481 |
| Aphasia 37 109 1.240289528106787 0.1694997732633946 |
| Abnormality of adrenal physiology 31 90 1.2678664445703751 0.170375529971623 |
| Abnormal eyebrow morphology 147 468 1.107918466567022 0.1702238315878107 |
| Abnormality of the external nose 211 680 1.0895476385985008 0.1696624991570536 |
| Abnormal thrombosis 24 68 1.3158539573633914 0.1711626701394902 |
| Functional abnormality of the middle ear 87 271 1.1425952256229888 0.1725250875138118 |
| Abnormality of the diencephalon 30 87 1.2699456270656384 0.1733853807200223 |
| Ichthyosis 30 87 1.2699456270656384 0.1733853807200223 |
| Hyperpigmentation of the skin 83 258 1.146013848647056 0.1732235685440935 |
| Embryonal neoplasm 23 65 1.320999534876261 0.1739254083906093 |
| Hyperhidrosis 29 84 1.2721811431902557 0.1764603856563918 |
| Heart block 22 62 1.3266666666666669 0.1767145217987581 |
| Aplasia hypoplasia of the extremities 166 532 1.097447975280282 0.1790808283718918 |
| Facial shape deformation 4 8 2.409638554216868 0.1822992480391213 |
| Neonatal onset 20 56 1.3399132645431435 0.1823495590896692 |
| Upgaze palsy 4 8 2.409638554216868 0.1822992480391213 |
| Depletion of mitochondrial dna in muscle tissue 4 8 2.409638554216868 0.1822992480391213 |
| Increased total bilirubin 4 8 2.409638554216868 0.1822992480391213 |
| T cell lymphoma 4 8 2.409638554216868 0.1822992480391213 |
| Undetectable light and dark adapted electroretinogram 4 8 2.409638554216868 0.1822992480391213 |
| Anterior rib cupping 4 8 2.409638554216868 0.1822992480391213 |
| Abnormality of facial adipose tissue 4 8 2.409638554216868 0.1822992480391213 |
| Abnormal hdl cholesterol concentration 4 8 2.409638554216868 0.1822992480391213 |
| Decreased corneal reflex 4 8 2.409638554216868 0.1822992480391213 |
| Tapered finger 34 100 1.243120863810519 0.1789041341260719 |
| Hepatic encephalopathy 4 8 2.409638554216868 0.1822992480391213 |
| Neoplasm of the gallbladder 4 8 2.409638554216868 0.1822992480391213 |
| Intestinal hypoplasia 4 8 2.409638554216868 0.1822992480391213 |
| Hemoglobinuria 4 8 2.409638554216868 0.1822992480391213 |
| Abnormality of vitamin e metabolism 4 8 2.409638554216868 0.1822992480391213 |
| Abnormal cerebral ventricle morphology 215 695 1.084548673628616 0.1809848573033553 |
| Generalized aminoaciduria 4 8 2.409638554216868 0.1822992480391213 |
| Paronychia 4 8 2.409638554216868 0.1822992480391213 |
| Myocardial fibrosis 4 8 2.409638554216868 0.1822992480391213 |
| Ethylmalonic aciduria 4 8 2.409638554216868 0.1822992480391213 |
| Simple ear 4 8 2.409638554216868 0.1822992480391213 |
| Exercise induced myoglobinuria 4 8 2.409638554216868 0.1822992480391213 |
| Localized hirsutism 4 8 2.409638554216868 0.1822992480391213 |
| Abnormality of circulating leptin level 4 8 2.409638554216868 0.1822992480391213 |
| Short lingual frenulum 4 8 2.409638554216868 0.1822992480391213 |
| Calvarial hyperostosis 4 8 2.409638554216868 0.1822992480391213 |
| Arm dystonia 4 8 2.409638554216868 0.1822992480391213 |
| Unilateral renal agenesis 20 56 1.3399132645431435 0.1823495590896692 |
| Abnormal placental size 4 8 2.409638554216868 0.1822992480391213 |
| Abnormality of chorioretinal pigmentation 4 8 2.409638554216868 0.1822992480391213 |
| Type ii diabetes mellitus 38 113 1.2227578424734822 0.1828884885257393 |
| Vestibular dysfunction 27 78 1.2771947227457594 0.1828123242594647 |
| Abnormal morphology of the great vessels 161 516 1.097197526380466 0.1834807611782183 |
| Constriction of peripheral visual field 19 53 1.3477176945450229 0.1851800118321633 |
| Gynecomastia 19 53 1.3477176945450229 0.1851800118321633 |
| Hypotelorism 32 94 1.245335658238884 0.1855611705065666 |
| Sparse hair 74 230 1.1457443630164672 0.1888807082454231 |
| Abnormal stomach morphology 70 217 1.1500602979042405 0.1895334181212689 |
| Adrenal insufficiency 25 72 1.283085572503209 0.189443861401838 |
| Anorexia 25 72 1.283085572503209 0.189443861401838 |
| Dehydration 17 47 1.3664761904761904 0.1908092456588962 |
| Cachexia 17 47 1.3664761904761904 0.1908092456588962 |
| Insulin resistance 17 47 1.3664761904761904 0.1908092456588962 |
| Amyotrophic lateral sclerosis 15 41 1.391049326890778 0.1962730891153964 |
| Abnormality of the choanae 34 101 1.2243952650540402 0.1970368643982655 |
| Abnormal cervical spine morphology 5 11 2.008146412230778 0.1959993755727593 |
| Scaling skin 8 20 1.606791778373548 0.2079517585817872 |
| Branchial anomaly 8 20 1.606791778373548 0.2079517585817872 |
| Decreased proportion of cd3 positive t cells 2 3 4.818060200668897 0.207771861225997 |
| Abnormal vestibulo ocular reflex 2 3 4.818060200668897 0.207771861225997 |
| Otitis media 54 166 1.1638383740153653 0.2042735206508024 |
| Hodgkin lymphoma 8 20 1.606791778373548 0.2079517585817872 |
| Triangular shaped phalanges of the hand 59 182 1.1580556548831769 0.2005256504214581 |
| Bone spicule pigmentation of the retina 9 23 1.549494755998276 0.2079455551447337 |
| Abnormality of the glabella 6 14 1.8074346952444744 0.2030948729002972 |
| Absent distal phalanges 2 3 4.818060200668897 0.207771861225997 |
| Colon cancer 14 38 1.406424893664652 0.1988727285530496 |
| Abnormal urine carbohydrate level 11 29 1.4731447314473145 0.2055174732184986 |
| 2 3 toe cutaneous syndactyly 2 3 4.818060200668897 0.207771861225997 |
| Abnormal motor evoked potentials 2 3 4.818060200668897 0.207771861225997 |
| Epiphyseal stippling 11 29 1.4731447314473145 0.2055174732184986 |
| Abnormality of the auditory canal 20 57 1.303517514823033 0.2073096383072541 |
| Thoracolumbar kyphosis 6 14 1.8074346952444744 0.2030948729002972 |
| Hyperreflexia in upper limbs 7 17 1.6870351758793969 0.2065962022509203 |
| Scapular winging 21 60 1.2985785671749994 0.203586654557581 |
| Abnormal endocrine physiology 5 11 2.008146412230778 0.1959993755727593 |
| Abnormal shape of the frontal region 98 310 1.116845522942718 0.2033058511440604 |
| Abnormal circulating dehydroepiandrosterone concentration 2 3 4.818060200668897 0.207771861225997 |
| Patchy palmoplantar hyperkeratosis 2 3 4.818060200668897 0.207771861225997 |
| Limited elbow movement 34 101 1.2243952650540402 0.1970368643982655 |
| Cytochrome c oxidase negative muscle fibers 7 17 1.6870351758793969 0.2065962022509203 |
| Disseminated intravascular coagulation 7 17 1.6870351758793969 0.2065962022509203 |
| Limited extraocular movements 6 14 1.8074346952444744 0.2030948729002972 |
| Progressive visual field defects 2 3 4.818060200668897 0.207771861225997 |
| Primitive reflex 6 14 1.8074346952444744 0.2030948729002972 |
| Abnormal natural killer cell morphology 5 11 2.008146412230778 0.1959993755727593 |
| Minicore myopathy 2 3 4.818060200668897 0.207771861225997 |
| Abnormality of t cell physiology 15 41 1.391049326890778 0.1962730891153964 |
| Dystrophic toenail 6 14 1.8074346952444744 0.2030948729002972 |
| Occipital meningocele 5 11 2.008146412230778 0.1959993755727593 |
| Recurrent opportunistic infections 2 3 4.818060200668897 0.207771861225997 |
| Thick hair 6 14 1.8074346952444744 0.2030948729002972 |
| Sparse body hair 10 26 1.506539235412475 0.2070382767879614 |
| Fragile skin 9 23 1.549494755998276 0.2079455551447337 |
| Diaphragmatic weakness 5 11 2.008146412230778 0.1959993755727593 |
| Abnormal oral frenulum morphology 14 38 1.406424893664652 0.1988727285530496 |
| Abnormal auditory evoked potentials 8 20 1.606791778373548 0.2079517585817872 |
| Neonatal hypoglycemia 10 26 1.506539235412475 0.2070382767879614 |
| Increased susceptibility to fractures 48 146 1.182231588287489 0.1960488993174883 |
| Abnormal serum interferon level 5 11 2.008146412230778 0.1959993755727593 |
| Elevated mean arterial pressure 2 3 4.818060200668897 0.207771861225997 |
| Abnormal speech prosody 7 17 1.6870351758793969 0.2065962022509203 |
| Primary peritoneal carcinoma 6 14 1.8074346952444744 0.2030948729002972 |
| Abnormal chromosome morphology 2 3 4.818060200668897 0.207771861225997 |
| Aplasia hypoplasia of the thyroid gland 5 11 2.008146412230778 0.1959993755727593 |
| Slow saccadic eye movements 10 26 1.506539235412475 0.2070382767879614 |
| Patent foramen ovale 24 69 1.2864330637915544 0.1928680314351714 |
| Allergy 7 17 1.6870351758793969 0.2065962022509203 |
| Polycystic kidney dysplasia 15 41 1.391049326890778 0.1962730891153964 |
| Abnormal circulating tyrosine concentration 2 3 4.818060200668897 0.207771861225997 |
| Ankle flexion contracture 14 38 1.406424893664652 0.1988727285530496 |
| Finger swelling 2 3 4.818060200668897 0.207771861225997 |
| Clonus 28 82 1.2508122157244963 0.1999204490535084 |
| Abnormality of the uterus 54 166 1.1638383740153653 0.2042735206508024 |
| Abnormal vertebral morphology 101 319 1.1195548348401716 0.1941080894999158 |
| Eeg with generalized slow activity 8 20 1.606791778373548 0.2079517585817872 |
| Alopecia totalis 5 11 2.008146412230778 0.1959993755727593 |
| Distal upper limb muscle weakness 7 17 1.6870351758793969 0.2065962022509203 |
| Reduced subcutaneous adipose tissue 9 23 1.549494755998276 0.2079455551447337 |
| Neoplasm of the rectum 13 35 1.4246086240043945 0.2013265618504838 |
| Uric acid nephrolithiasis 2 3 4.818060200668897 0.207771861225997 |
| Abnormality of the endometrium 8 20 1.606791778373548 0.2079517585817872 |
| Frontotemporal dementia 10 26 1.506539235412475 0.2070382767879614 |
| Avascular necrosis 20 57 1.303517514823033 0.2073096383072541 |
| Gangrene 10 26 1.506539235412475 0.2070382767879614 |
| Beaking of vertebral bodies 8 20 1.606791778373548 0.2079517585817872 |
| Thick cerebral cortex 5 11 2.008146412230778 0.1959993755727593 |
| Progressive sensorineural hearing impairment 10 26 1.506539235412475 0.2070382767879614 |
| Cardiac conduction abnormality 29 85 1.249288848175112 0.1961909257965351 |
| Perseveration 7 17 1.6870351758793969 0.2065962022509203 |
| Easy fatigability 20 57 1.303517514823033 0.2073096383072541 |
| Abnormal tongue morphology 69 215 1.1411666565125902 0.2055331267921443 |
| Central adrenal insufficiency 5 11 2.008146412230778 0.1959993755727593 |
| Bone fracture 6 14 1.8074346952444744 0.2030948729002972 |
| Progeroid facial appearance 7 17 1.6870351758793969 0.2065962022509203 |
| Abnormal length of corpus callosum 2 3 4.818060200668897 0.207771861225997 |
| Hydroxyprolinuria 2 3 4.818060200668897 0.207771861225997 |
| Reduced factor xiii activity 2 3 4.818060200668897 0.207771861225997 |
| Anti thyroid peroxidase antibody positivity 2 3 4.818060200668897 0.207771861225997 |
| Submucous cleft of soft and hard palate 22 63 1.2941282746160796 0.1999387654308336 |
| Aplasia cutis congenita of scalp 6 14 1.8074346952444744 0.2030948729002972 |
| Abnormality of nail color 6 14 1.8074346952444744 0.2030948729002972 |
| Pseudohypoaldosteronism 2 3 4.818060200668897 0.207771861225997 |
| Oral cavity bleeding 6 14 1.8074346952444744 0.2030948729002972 |
| Abnormality of the midface 141 451 1.0998449893076567 0.1937119930620336 |
| Ovotestis 2 3 4.818060200668897 0.207771861225997 |
| Inappropriate antidiuretic hormone secretion 2 3 4.818060200668897 0.207771861225997 |
| Giant platelets 2 3 4.818060200668897 0.207771861225997 |
| Recurrent tonsillitis 2 3 4.818060200668897 0.207771861225997 |
| Overriding aorta 9 23 1.549494755998276 0.2079455551447337 |
| Peripheral cyanosis 7 17 1.6870351758793969 0.2065962022509203 |
| Abnormality of chromosome segregation 5 11 2.008146412230778 0.1959993755727593 |
| Interstitial cardiac fibrosis 2 3 4.818060200668897 0.207771861225997 |
| Cranial asymmetry 6 14 1.8074346952444744 0.2030948729002972 |
| Acanthocytosis 5 11 2.008146412230778 0.1959993755727593 |
| Heinz bodies 2 3 4.818060200668897 0.207771861225997 |
| Tetany 5 11 2.008146412230778 0.1959993755727593 |
| Abnormality of the extrinsic pathway 5 11 2.008146412230778 0.1959993755727593 |
| Abnormality of the common coagulation pathway 13 35 1.4246086240043945 0.2013265618504838 |
| Abnormality of pelvic girdle bone morphology 137 439 1.096686422101344 0.2047839931388817 |
| Wide anterior fontanel 21 60 1.2985785671749994 0.203586654557581 |
| Renal tubular acidosis 12 32 1.446442953020134 0.2035711038751686 |
| Generalized hyperreflexia 5 11 2.008146412230778 0.1959993755727593 |
| Increased hepatocellular lipid droplets 2 3 4.818060200668897 0.207771861225997 |
| Hypertension associated with pheochromocytoma 7 17 1.6870351758793969 0.2065962022509203 |
| Paranoia 6 14 1.8074346952444744 0.2030948729002972 |
| Severe photosensitivity 2 3 4.818060200668897 0.207771861225997 |
| Blepharitis 14 38 1.406424893664652 0.1988727285530496 |
| Ecchymosis 11 29 1.4731447314473145 0.2055174732184986 |
| Nonprogressive encephalopathy 2 3 4.818060200668897 0.207771861225997 |
| Aplasia cutis congenita over the scalp vertex 2 3 4.818060200668897 0.207771861225997 |
| Abnormal scrotal rugation 2 3 4.818060200668897 0.207771861225997 |
| Aplasia hypoplasia of the eyebrow 40 121 1.1915754960018736 0.2099260010481199 |
| Generalized myoclonic seizure 40 121 1.1915754960018736 0.2099260010481199 |
| Abnormality of skin pigmentation 119 380 1.101838627037566 0.2103735933623527 |
| Nephrocalcinosis 19 54 1.3090288789582432 0.2111068863918855 |
| Hypercalcemia 19 54 1.3090288789582432 0.2111068863918855 |
| Dialeptic seizure 52 160 1.1621063240110858 0.211808528970477 |
| Bifid uvula 35 105 1.2062901589448765 0.2119191172640541 |
| Deep philtrum 18 51 1.31521672678364 0.214976522107682 |
| Macroglossia 34 102 1.2062204192021635 0.2160776575812758 |
| Ventriculomegaly 170 550 1.0818008877615726 0.2169727953476766 |
| Urethral obstruction 17 48 1.3222119815668203 0.2189152126359733 |
| Abnormal lactate dehydrogenase level 17 48 1.3222119815668203 0.2189152126359733 |
| Dysphasia 17 48 1.3222119815668203 0.2189152126359733 |
| Abnormal palmar dermatoglyphics 54 167 1.1533762658361295 0.2192748171908238 |
| Hip dysplasia 46 141 1.1684496373316182 0.2197489559655268 |
| Abnormality of the peripheral nervous system 93 295 1.112001748639852 0.2197059916809297 |
| Enlarged posterior fossa 46 141 1.1684496373316182 0.2197489559655268 |
| Open bite 16 45 1.3301816833518725 0.2229175867816567 |
| Truncal ataxia 16 45 1.3301816833518725 0.2229175867816567 |
| Abnormality of the lymphatic system 137 441 1.0891556825513873 0.223393536446433 |
| Abnormal form of the vertebral bodies 78 246 1.1210412785567212 0.2245703033239672 |
| Abnormal circulating igm level 15 42 1.3393423655432388 0.2269753944651651 |
| Narrow palpebral fissure 15 42 1.3393423655432388 0.2269753944651651 |
| Abnormal endocardium morphology 15 42 1.3393423655432388 0.2269753944651651 |
| Abnormality of the scrotum 44 135 1.1666393308184353 0.2281972735019989 |
| Hip dislocation 59 184 1.1392049096488237 0.2293475489820876 |
| Atresia of the external auditory canal 14 39 1.349979852249832 0.2310762712564648 |
| Urethral stenosis 14 39 1.349979852249832 0.2310762712564648 |
| Choroid plexus carcinoma 3 6 2.409166945466711 0.243604118687407 |
| Impaired distal proprioception 3 6 2.409166945466711 0.243604118687407 |
| Chondrosarcoma 3 6 2.409166945466711 0.243604118687407 |
| Aplasia hypoplasia of the tragus 3 6 2.409166945466711 0.243604118687407 |
| Abnormality of thyroid physiology 71 224 1.120175515145006 0.2381775619106813 |
| Renal fanconi syndrome 3 6 2.409166945466711 0.243604118687407 |
| Long clavicles 3 6 2.409166945466711 0.243604118687407 |
| Progressive peripheral neuropathy 3 6 2.409166945466711 0.243604118687407 |
| Peripheral hypomyelination 3 6 2.409166945466711 0.243604118687407 |
| Thin ribs 12 33 1.377372962607862 0.2393250789139875 |
| Childhood onset 34 103 1.1885723804764283 0.2359764929059761 |
| Trichorrhexis nodosa 3 6 2.409166945466711 0.243604118687407 |
| Extrapyramidal dyskinesia 3 6 2.409166945466711 0.243604118687407 |
| Patellar dislocation 18 52 1.2763558685074567 0.2435739549508888 |
| Abnormal thyroid morphology 37 113 1.174352123964734 0.2416424804388163 |
| Abnormality of the dorsal column of the spinal cord 3 6 2.409166945466711 0.243604118687407 |
| Orchitis 3 6 2.409166945466711 0.243604118687407 |
| Ascites 24 71 1.231347135401732 0.2401157249038704 |
| Ventricular septal hypertrophy 3 6 2.409166945466711 0.243604118687407 |
| Nonprogressive cerebellar ataxia 3 6 2.409166945466711 0.243604118687407 |
| Abnormality of the palm 104 333 1.0968440406923998 0.2384383519250056 |
| Absent hypoplastic paranasal sinuses 3 6 2.409166945466711 0.243604118687407 |
| Progressive encephalopathy 3 6 2.409166945466711 0.243604118687407 |
| Abnormal mitral valve physiology 37 113 1.174352123964734 0.2416424804388163 |
| Abnormal larynx physiology 13 36 1.362479384678255 0.2352018840604809 |
| Abnormal synaptic transmission at the neuromuscular junction 25 74 1.230370813643961 0.2351936788786254 |
| Asthenia 3 6 2.409166945466711 0.243604118687407 |
| Chilblains 3 6 2.409166945466711 0.243604118687407 |
| Recurrent viral infections 13 36 1.362479384678255 0.2352018840604809 |
| Reduction of neutrophil motility 3 6 2.409166945466711 0.243604118687407 |
| Abnormality of body mass index 3 6 2.409166945466711 0.243604118687407 |
| Shock 3 6 2.409166945466711 0.243604118687407 |
| Abnormal blood potassium concentration 12 33 1.377372962607862 0.2393250789139875 |
| Porokeratosis 3 6 2.409166945466711 0.243604118687407 |
| Unconjugated hyperbilirubinemia 3 6 2.409166945466711 0.243604118687407 |
| Female reproductive system neoplasm 19 55 1.2724894420151736 0.238596991452208 |
| Achilles tendon contracture 11 30 1.3954165857448049 0.2434053661863516 |
| Synostosis involving bones of the upper limbs 29 87 1.2058724265946676 0.2387944270402985 |
| Autosomal dominant germline de novo mutation 3 6 2.409166945466711 0.243604118687407 |
| Abnormality of the synovia 78 247 1.1142495116414128 0.2374884609058481 |
| Vegetative state 3 6 2.409166945466711 0.243604118687407 |
| Abnormal sweat gland morphology 3 6 2.409166945466711 0.243604118687407 |
| Abnormal rib ossification 3 6 2.409166945466711 0.243604118687407 |
| Abnormal protein o linked glycosylation 3 6 2.409166945466711 0.243604118687407 |
| Multiple rows of eyelashes 3 6 2.409166945466711 0.243604118687407 |
| Psychogenic non epileptic seizure 25 74 1.230370813643961 0.2351936788786254 |
| High pitched voice 11 30 1.3954165857448049 0.2434053661863516 |
| Mottled pigmentation 3 6 2.409166945466711 0.243604118687407 |
| Bilateral external ear deformity 3 6 2.409166945466711 0.243604118687407 |
| Patchy alopecia 3 6 2.409166945466711 0.243604118687407 |
| Soft doughy skin 3 6 2.409166945466711 0.243604118687407 |
| Autoamputation of digits 3 6 2.409166945466711 0.243604118687407 |
| Abnormality of the periorbital region 63 198 1.12627745533174 0.2424747832011794 |
| Torsion dystonia 3 6 2.409166945466711 0.243604118687407 |
| Hyposmia 13 36 1.362479384678255 0.2352018840604809 |
| Eeg with irregular generalized spike and wave complexes 3 6 2.409166945466711 0.243604118687407 |
| Fractures of the long bones 3 6 2.409166945466711 0.243604118687407 |
| Progressive hearing impairment 13 36 1.362479384678255 0.2352018840604809 |
| Punctate cataract 3 6 2.409166945466711 0.243604118687407 |
| Choroid plexus cyst 3 6 2.409166945466711 0.243604118687407 |
| Posterior embryotoxon 18 52 1.2763558685074567 0.2435739549508888 |
| Severe lactic acidosis 3 6 2.409166945466711 0.243604118687407 |
| Skeletal muscle hypertrophy 43 132 1.1656779483428017 0.2325885383272165 |
| Generalized hirsutism 25 74 1.230370813643961 0.2351936788786254 |
| Unilateral ptosis 3 6 2.409166945466711 0.243604118687407 |
| Abnormal t cell proliferation 3 6 2.409166945466711 0.243604118687407 |
| Abnormal urine protein level 53 165 1.1418971467457346 0.2391233373861512 |
| Abnormal rectum morphology 30 90 1.2059419311276165 0.2339715136951847 |
| Cold induced muscle cramps 3 6 2.409166945466711 0.243604118687407 |
| Eeg with focal sharp waves 3 6 2.409166945466711 0.243604118687407 |
| Cortical cataract 3 6 2.409166945466711 0.243604118687407 |
| Axial dystonia 3 6 2.409166945466711 0.243604118687407 |
| Angiokeratoma 3 6 2.409166945466711 0.243604118687407 |
| Single fiber emg abnormality 3 6 2.409166945466711 0.243604118687407 |
| Abnormal response to endocrine stimulation test 3 6 2.409166945466711 0.243604118687407 |
| Anisopoikilocytosis 3 6 2.409166945466711 0.243604118687407 |
| Aortic aneurysm 50 155 1.149040173513321 0.2359244334166532 |
| Abnormal saccadic eye movements 23 68 1.2324164514801093 0.2452050747126145 |
| Neoplasm of the thyroid gland 23 68 1.2324164514801093 0.2452050747126145 |
| Diffuse cerebellar atrophy 6 15 1.6063853538736326 0.2592092779998297 |
| Seborrheic dermatitis 7 18 1.5334551545606825 0.2574166276436418 |
| Short clavicles 9 24 1.4459939658062353 0.2511589958386848 |
| Metaphyseal sclerosis 4 9 1.9274431057563588 0.2554289942813101 |
| Wide nasal ridge 4 9 1.9274431057563588 0.2554289942813101 |
| Decreased number of large peripheral myelinated nerve fibers 5 12 1.721029221866182 0.2591348687049186 |
| Periodontitis 9 24 1.4459939658062353 0.2511589958386848 |
| Pseudoepiphyses of hand bones 4 9 1.9274431057563588 0.2554289942813101 |
| Neoplasm of the larynx 4 9 1.9274431057563588 0.2554289942813101 |
| Increased circulating igm level 8 21 1.482986182718086 0.2545872453835961 |
| Endocarditis 5 12 1.721029221866182 0.2591348687049186 |
| Progressive external ophthalmoplegia 10 27 1.4177220183848187 0.2473815264723382 |
| Decreased ldl cholesterol concentration 4 9 1.9274431057563588 0.2554289942813101 |
| Short digit 138 447 1.0789489798001102 0.2495583349382624 |
| Myofibrillar myopathy 4 9 1.9274431057563588 0.2554289942813101 |
| Short femur 5 12 1.721029221866182 0.2591348687049186 |
| Abnormality of skeletal muscle fiber size 16 46 1.285663082437276 0.2540289838730864 |
| Respiratory arrest 7 18 1.5334551545606825 0.2574166276436418 |
| Abnormality of lower limb metaphyses 6 15 1.6063853538736326 0.2592092779998297 |
| Hyperinsulinemic hypoglycemia 6 15 1.6063853538736326 0.2592092779998297 |
| Nuclear cataract 4 9 1.9274431057563588 0.2554289942813101 |
| Methylmalonic aciduria 6 15 1.6063853538736326 0.2592092779998297 |
| Dysmetric saccades 6 15 1.6063853538736326 0.2592092779998297 |
| Sparse eyelashes 16 46 1.285663082437276 0.2540289838730864 |
| Abnormal hair laboratory examination 7 18 1.5334551545606825 0.2574166276436418 |
| Lymphoproliferative disorder 4 9 1.9274431057563588 0.2554289942813101 |
| Fatigable weakness of skeletal muscles 8 21 1.482986182718086 0.2545872453835961 |
| Decreased calvarial ossification 4 9 1.9274431057563588 0.2554289942813101 |
| Rapidly progressive 10 27 1.4177220183848187 0.2473815264723382 |
| Elfin facies 7 18 1.5334551545606825 0.2574166276436418 |
| Striae distensae 8 21 1.482986182718086 0.2545872453835961 |
| Perisylvian polymicrogyria 5 12 1.721029221866182 0.2591348687049186 |
| Shield chest 5 12 1.721029221866182 0.2591348687049186 |
| Craniofacial dysostosis 4 9 1.9274431057563588 0.2554289942813101 |
| Subacute progressive viral hepatitis 4 9 1.9274431057563588 0.2554289942813101 |
| Hyperlordosis 46 143 1.1440359459970184 0.2542835648101874 |
| Cardiac valve calcification 4 9 1.9274431057563588 0.2554289942813101 |
| Vaginal neoplasm 4 9 1.9274431057563588 0.2554289942813101 |
| Dysostosis multiplex 8 21 1.482986182718086 0.2545872453835961 |
| Thyroid carcinoma 16 46 1.285663082437276 0.2540289838730864 |
| Everted upper lip vermilion 5 12 1.721029221866182 0.2591348687049186 |
| Reduced antithrombin iii activity 4 9 1.9274431057563588 0.2554289942813101 |
| Delayed fine motor development 9 24 1.4459939658062353 0.2511589958386848 |
| Focal white matter lesions 6 15 1.6063853538736326 0.2592092779998297 |
| Degeneration of the striatum 4 9 1.9274431057563588 0.2554289942813101 |
| Joint hypermobility 87 278 1.0996224238765082 0.2539558171652102 |
| Multifocal cerebral white matter abnormalities 5 12 1.721029221866182 0.2591348687049186 |
| Distal peripheral sensory neuropathy 5 12 1.721029221866182 0.2591348687049186 |
| Hyperkalemia 5 12 1.721029221866182 0.2591348687049186 |
| Extrapyramidal muscular rigidity 5 12 1.721029221866182 0.2591348687049186 |
| Pancreatic hypoplasia 5 12 1.721029221866182 0.2591348687049186 |
| Ileus 4 9 1.9274431057563588 0.2554289942813101 |
| Abnormality of lower lip 62 195 1.1250019246067386 0.2467334275067538 |
| Breech presentation 8 21 1.482986182718086 0.2545872453835961 |
| Raynaud phenomenon 6 15 1.6063853538736326 0.2592092779998297 |
| Skin dimple 26 78 1.205664194200944 0.2542371635734322 |
| Hyperacusis 8 21 1.482986182718086 0.2545872453835961 |
| Abnormal dermatoglyphics 67 212 1.1151264367816092 0.2548238758544471 |
| Congenital ichthyosiform erythroderma 5 12 1.721029221866182 0.2591348687049186 |
| Abnormal skin morphology of the palm 84 268 1.1020572932240895 0.2530056005509755 |
| Split nail 4 9 1.9274431057563588 0.2554289942813101 |
| Abnormal conus terminalis morphology 7 18 1.5334551545606825 0.2574166276436418 |
| Abnormal sella turcica morphology 7 18 1.5334551545606825 0.2574166276436418 |
| J shaped sella turcica 4 9 1.9274431057563588 0.2554289942813101 |
| Micropenis 60 189 1.1223389066912022 0.2555300718892558 |
| Plantar hyperkeratosis 31 94 1.1867022616769325 0.2508161469612935 |
| Abnormal serum iron concentration 4 9 1.9274431057563588 0.2554289942813101 |
| Low hanging columella 10 27 1.4177220183848187 0.2473815264723382 |
| Generalized clonic seizure 6 15 1.6063853538736326 0.2592092779998297 |
| Acute encephalopathy 4 9 1.9274431057563588 0.2554289942813101 |
| Recurrent paroxysmal headache 9 24 1.4459939658062353 0.2511589958386848 |
| Joint subluxation 6 15 1.6063853538736326 0.2592092779998297 |
| Abnormal salivary gland morphology 5 12 1.721029221866182 0.2591348687049186 |
| Akinesia 9 24 1.4459939658062353 0.2511589958386848 |
| Trismus 4 9 1.9274431057563588 0.2554289942813101 |
| Temporal pattern 7 18 1.5334551545606825 0.2574166276436418 |
| Fasting hyperinsulinemia 4 9 1.9274431057563588 0.2554289942813101 |
| Misalignment of incisors 4 9 1.9274431057563588 0.2554289942813101 |
| Long toe 9 24 1.4459939658062353 0.2511589958386848 |
| Movement abnormality of the tongue 4 9 1.9274431057563588 0.2554289942813101 |
| Aplastic anemia 7 18 1.5334551545606825 0.2574166276436418 |
| Dyslexia 8 21 1.482986182718086 0.2545872453835961 |
| Zonular cataract 9 24 1.4459939658062353 0.2511589958386848 |
| Obsessive compulsive trait 5 12 1.721029221866182 0.2591348687049186 |
| Short upper lip 4 9 1.9274431057563588 0.2554289942813101 |
| Cystoid macular edema 4 9 1.9274431057563588 0.2554289942813101 |
| Central sleep apnea 6 15 1.6063853538736326 0.2592092779998297 |
| Cerebral hypoplasia 15 43 1.291328758577667 0.2595266716158652 |
| Multiple renal cysts 15 43 1.291328758577667 0.2595266716158652 |
| Low set posteriorly rotated ears 69 219 1.110106055422511 0.2607316877776518 |
| Open mouth 29 88 1.1852680231327617 0.2615212442332817 |
| Gait imbalance 20 59 1.2363253614935985 0.2615957598910502 |
| Failure to thrive in infancy 29 88 1.1852680231327617 0.2615212442332817 |
| Abnormality of the shoulder girdle musculature 29 88 1.1852680231327617 0.2615212442332817 |
| Abnormal thumb morphology 101 325 1.088630972970302 0.2611724335117028 |
| Lower extremity joint dislocation 72 229 1.1067620626472383 0.2620923618618122 |
| Abnormal morphology of the musculature of the neck 14 40 1.2978767370976907 0.2652186213149657 |
| Abnormality of the musculature of the lower limbs 24 72 1.2055256064690028 0.2654516566511606 |
| Abnormality of the abdominal wall 112 362 1.0817333333333334 0.2662646219620723 |
| Convex nasal ridge 19 56 1.2379251097717294 0.2674808080699775 |
| Abnormality of the maxilla 32 98 1.1692055692055692 0.2674884779665647 |
| Abnormality of skin adnexa physiology 39 121 1.1470682976386146 0.2711015915237347 |
| Bundle branch block 13 37 1.3055275819626273 0.2711160605530528 |
| Abnormal visual electrophysiology 46 144 1.1322027792787177 0.2724021216239227 |
| Abnormality of limb epiphysis morphology 27 82 1.1836455618580408 0.272970324196228 |
| Abnormal retinal morphology 200 657 1.0575699246988897 0.2751596982528219 |
| Obstructive sleep apnea 12 34 1.3145820622330688 0.2772303435082974 |
| Abnormality of skull ossification 12 34 1.3145820622330688 0.2772303435082974 |
| Reduced visual acuity 106 343 1.0797096999628646 0.2776893124331723 |
| Abnormality of the knee 81 260 1.092033876511556 0.2789986209860725 |
| Abnormality of the elbow 55 174 1.1149403581657382 0.279289834418658 |
| Bulbous nose 41 128 1.1365599816154277 0.2800753675401444 |
| Vascular skin abnormality 108 350 1.077326027899726 0.2817560238802232 |
| Delayed eruption of teeth 44 138 1.1289298189901555 0.2830403483929292 |
| Ankle clonus 11 31 1.3254612546125462 0.2835722721941132 |
| Synostosis involving bones of the hand 11 31 1.3254612546125462 0.2835722721941132 |
| Specific learning disability 64 204 1.102888368462139 0.2837668122073009 |
| Chronic diarrhea 16 47 1.244016649323621 0.2866585261689869 |
| Osteoarthritis 10 28 1.3387733810269022 0.290150766634475 |
| Congenital adrenal hyperplasia 1 1 inf 0.2934484111360748 |
| Tented upper lip vermilion 20 60 1.205248990578735 0.2906003125572632 |
| Single ventricle 1 1 inf 0.2934484111360748 |
| Retinal arteriolar tortuosity 10 28 1.3387733810269022 0.290150766634475 |
| Premature adrenarche 1 1 inf 0.2934484111360748 |
| Hypochloremia 1 1 inf 0.2934484111360748 |
| Abnormal circulating hormone concentration 81 261 1.0858124355891443 0.2929708186849922 |
| Limb dystonia 15 44 1.2466264348510998 0.2936401916154829 |
| Arrhinencephaly 10 28 1.3387733810269022 0.290150766634475 |
| Calcium oxalate nephrolithiasis 1 1 inf 0.2934484111360748 |
| Occipital cortical atrophy 1 1 inf 0.2934484111360748 |
| Calcium nephrolithiasis 1 1 inf 0.2934484111360748 |
| Antenatal onset 10 28 1.3387733810269022 0.290150766634475 |
| Keratoconjunctivitis 10 28 1.3387733810269022 0.290150766634475 |
| Abnormality of the thymus 15 44 1.2466264348510998 0.2936401916154829 |
| Renal potassium wasting 1 1 inf 0.2934484111360748 |
| Abnormal heart valve physiology 78 251 1.0878676193461108 0.2925341316643309 |
| Abnormality of retinal pigmentation 72 231 1.092530369604549 0.2913621999996052 |
| Parkinsonism 28 86 1.1638978081809297 0.2913599966553233 |
| Hypokalemic metabolic alkalosis 1 1 inf 0.2934484111360748 |
| Renal cell carcinoma 20 60 1.205248990578735 0.2906003125572632 |
| Flexion contracture of thumb 1 1 inf 0.2934484111360748 |
| Decreased circulating gaba concentration 1 1 inf 0.2934484111360748 |
| Hypokalemic alkalosis 1 1 inf 0.2934484111360748 |
| Abnormal epiphyseal ossification 15 44 1.2466264348510998 0.2936401916154829 |
| Morphological abnormality of the pyramidal tract 20 60 1.205248990578735 0.2906003125572632 |
| Mild hearing impairment 10 28 1.3387733810269022 0.290150766634475 |
| Autoimmune thrombocytopenia 9 25 1.3554307743881997 0.296970255928536 |
| Status epilepticus 45 142 1.1187858349745854 0.2966409543591363 |
| Adipose tissue loss 9 25 1.3554307743881997 0.296970255928536 |
| Blue irides 9 25 1.3554307743881997 0.296970255928536 |
| Epidermal acanthosis 9 25 1.3554307743881997 0.296970255928536 |
| Fragile nails 9 25 1.3554307743881997 0.296970255928536 |
| Absent fingernail 9 25 1.3554307743881997 0.296970255928536 |
| Intestinal pseudo obstruction 9 25 1.3554307743881997 0.296970255928536 |
| Abnormal hair whorl 19 57 1.205179952909519 0.2975663929603455 |
| Abnormality of the parathyroid gland 19 57 1.205179952909519 0.2975663929603455 |
| Short palpebral fissure 27 83 1.1623464225487834 0.2978656355905555 |
| Abnormality of femur morphology 61 195 1.0980664741797663 0.2987566742738486 |
| Tall stature 51 162 1.108108108108108 0.3003408841423325 |
| Hyperostosis 14 41 1.2496331119568191 0.3009681565305178 |
| Insomnia 14 41 1.2496331119568191 0.3009681565305178 |
| Fatigue 73 235 1.0871006898185156 0.3015574717614337 |
| Sunken cheeks 2 4 2.408695652173913 0.3367519482112816 |
| Abnormal dermoepidermal junction morphology 3 7 1.8066242890598865 0.3380883611733909 |
| Impaired tandem gait 15 45 1.2049042660396372 0.3290014940242035 |
| Aphthous ulcer 6 16 1.4455458807769592 0.3186940748817347 |
| Oliguria 2 4 2.408695652173913 0.3367519482112816 |
| Axonal loss 6 16 1.4455458807769592 0.3186940748817347 |
| Gingival overgrowth 27 84 1.1417946214609036 0.3234883618140565 |
| Suicidal ideation 3 7 1.8066242890598865 0.3380883611733909 |
| Abnormality of the epiphyses of the distal phalanx of finger 2 4 2.408695652173913 0.3367519482112816 |
| Short sternum 3 7 1.8066242890598865 0.3380883611733909 |
| Severe short limb dwarfism 2 4 2.408695652173913 0.3367519482112816 |
| Hyperphenylalaninemia 2 4 2.408695652173913 0.3367519482112816 |
| Elevated diastolic blood pressure 2 4 2.408695652173913 0.3367519482112816 |
| Chronic fatigue 7 19 1.4054718034617533 0.3112903729473412 |
| Triangular mouth 6 16 1.4455458807769592 0.3186940748817347 |
| Abnormal sacrum morphology 32 101 1.117900509204857 0.3368956370677731 |
| Hyporeflexia of upper limbs 2 4 2.408695652173913 0.3367519482112816 |
| Eruption failure 6 16 1.4455458807769592 0.3186940748817347 |
| Congenital posterior urethral valve 3 7 1.8066242890598865 0.3380883611733909 |
| Episodic pain 10 29 1.2681351265487664 0.3346946052823376 |
| Ectrodactyly 16 48 1.20497311827957 0.3205301829462966 |
| Appendicular hypotonia 2 4 2.408695652173913 0.3367519482112816 |
| Abnormal proportion of cd8 positive t cells 4 10 1.6059794734493529 0.3329485353303352 |
| Gingival bleeding 11 32 1.262168335969074 0.325477646072867 |
| Laryngeal cleft 2 4 2.408695652173913 0.3367519482112816 |
| Flaring of rib cage 2 4 2.408695652173913 0.3367519482112816 |
| Atopic dermatitis 4 10 1.6059794734493529 0.3329485353303352 |
| Nemaline bodies 4 10 1.6059794734493529 0.3329485353303352 |
| Opsoclonus 2 4 2.408695652173913 0.3367519482112816 |
| Mandibular aplasia 5 13 1.5056913290927352 0.3260613431922813 |
| Abnormal femoral head morphology 18 54 1.2051109616677875 0.3048542453554537 |
| Restrictive behavior 5 13 1.5056913290927352 0.3260613431922813 |
| Atlantoaxial abnormality 4 10 1.6059794734493529 0.3329485353303352 |
| Penetrating foot ulcers 2 4 2.408695652173913 0.3367519482112816 |
| Alopecia universalis 2 4 2.408695652173913 0.3367519482112816 |
| Woolly hair 5 13 1.5056913290927352 0.3260613431922813 |
| Severe intrauterine growth retardation 3 7 1.8066242890598865 0.3380883611733909 |
| Abnormal circulating glutamine family amino acid concentration 6 16 1.4455458807769592 0.3186940748817347 |
| Abnormal femoral neck head morphology 40 127 1.1084633834844095 0.3270264333391002 |
| Decreased specific antibody response to protein vaccine 2 4 2.408695652173913 0.3367519482112816 |
| Cerebral edema 8 22 1.3768671007276905 0.3040254447272014 |
| Enlargement of the costochondral junction 2 4 2.408695652173913 0.3367519482112816 |
| Aortic valve calcification 3 7 1.8066242890598865 0.3380883611733909 |
| Abnormality of urinary uric acid concentration 2 4 2.408695652173913 0.3367519482112816 |
| Negativism 2 4 2.408695652173913 0.3367519482112816 |
| Elliptocytosis 3 7 1.8066242890598865 0.3380883611733909 |
| Abnormality of the temporomandibular joint 4 10 1.6059794734493529 0.3329485353303352 |
| Increased fecal porphyrin 2 4 2.408695652173913 0.3367519482112816 |
| Cranial hyperostosis 12 35 1.2572512401517362 0.3168323165445775 |
| Prolonged partial thromboplastin time 5 13 1.5056913290927352 0.3260613431922813 |
| Abnormal bronchoalveolar lavage fluid morphology 2 4 2.408695652173913 0.3367519482112816 |
| Duplicated collecting system 6 16 1.4455458807769592 0.3186940748817347 |
| Anhidrosis 6 16 1.4455458807769592 0.3186940748817347 |
| Immunologic hypersensitivity 31 97 1.1322853663279195 0.3199743760575774 |
| Persistent ebv viremia 2 4 2.408695652173913 0.3367519482112816 |
| Reduced brain n acetyl aspartate level by mrs 3 7 1.8066242890598865 0.3380883611733909 |
| Elevated systolic blood pressure 2 4 2.408695652173913 0.3367519482112816 |
| Arterial thrombosis 6 16 1.4455458807769592 0.3186940748817347 |
| Physical urticaria 2 4 2.408695652173913 0.3367519482112816 |
| Adrenal hypoplasia 8 22 1.3768671007276905 0.3040254447272014 |
| Abnormality of skeletal maturation 85 276 1.0736046048804384 0.3167296257589371 |
| Biliary tract neoplasm 4 10 1.6059794734493529 0.3329485353303352 |
| Esophageal stricture 4 10 1.6059794734493529 0.3329485353303352 |
| Hypoplastic labia majora 11 32 1.262168335969074 0.325477646072867 |
| Branchial cyst 2 4 2.408695652173913 0.3367519482112816 |
| Iron accumulation in brain 3 7 1.8066242890598865 0.3380883611733909 |
| Recurrent aspiration pneumonia 6 16 1.4455458807769592 0.3186940748817347 |
| Pleuritis 3 7 1.8066242890598865 0.3380883611733909 |
| Cutis laxa 29 91 1.1274427618041871 0.3343127896261071 |
| Abnormal tricuspid valve morphology 12 35 1.2572512401517362 0.3168323165445775 |
| Abnormality of the breast 96 312 1.07243707796194 0.3070948628771562 |
| Hyperplasia of the maxilla 2 4 2.408695652173913 0.3367519482112816 |
| Chronic hemolytic anemia 2 4 2.408695652173913 0.3367519482112816 |
| Third degree atrioventricular block 2 4 2.408695652173913 0.3367519482112816 |
| Reduced factor xii activity 2 4 2.408695652173913 0.3367519482112816 |
| Progressive distal muscle weakness 3 7 1.8066242890598865 0.3380883611733909 |
| Congenital diaphragmatic hernia 22 67 1.1784362139917697 0.3055714849430949 |
| Subcortical band heterotopia 3 7 1.8066242890598865 0.3380883611733909 |
| Renal salt wasting 2 4 2.408695652173913 0.3367519482112816 |
| Absent epiphyses 5 13 1.5056913290927352 0.3260613431922813 |
| Membranoproliferative glomerulonephritis 2 4 2.408695652173913 0.3367519482112816 |
| Talipes valgus 4 10 1.6059794734493529 0.3329485353303352 |
| Increased urinary non proteinogenic amino acid level 4 10 1.6059794734493529 0.3329485353303352 |
| Trophic changes related to pain 2 4 2.408695652173913 0.3367519482112816 |
| Recurrent 2 4 2.408695652173913 0.3367519482112816 |
| Moderate albuminuria 3 7 1.8066242890598865 0.3380883611733909 |
| Broad based gait 22 68 1.152657004830918 0.3344423767889751 |
| Widely patent fontanelles and sutures 4 10 1.6059794734493529 0.3329485353303352 |
| Anterior open bite malocclusion 2 4 2.408695652173913 0.3367519482112816 |
| Generalized tonic seizure 18 54 1.2051109616677875 0.3048542453554537 |
| Gout 4 10 1.6059794734493529 0.3329485353303352 |
| Hand apraxia 2 4 2.408695652173913 0.3367519482112816 |
| Barrett esophagus 2 4 2.408695652173913 0.3367519482112816 |
| Long ear 2 4 2.408695652173913 0.3367519482112816 |
| Periorbital edema 26 80 1.1606852975699908 0.3046155986635044 |
| Chromosome breakage 10 29 1.2681351265487664 0.3346946052823376 |
| Increased arm span 3 7 1.8066242890598865 0.3380883611733909 |
| Mild global developmental delay 15 45 1.2049042660396372 0.3290014940242035 |
| Soft tissue sarcoma 29 91 1.1274427618041871 0.3343127896261071 |
| Generalized hypopigmentation 8 22 1.3768671007276905 0.3040254447272014 |
| Limited wrist movement 4 10 1.6059794734493529 0.3329485353303352 |
| Decreased palmar creases 2 4 2.408695652173913 0.3367519482112816 |
| Lacrimal duct atresia 2 4 2.408695652173913 0.3367519482112816 |
| Partial agenesis of the corpus callosum 12 35 1.2572512401517362 0.3168323165445775 |
| Down sloping shoulders 22 68 1.152657004830918 0.3344423767889751 |
| Abnormality of facial soft tissue 108 352 1.0681885359587096 0.3061781544849183 |
| Reticular hyperpigmentation 2 4 2.408695652173913 0.3367519482112816 |
| Slender long bone 13 38 1.2531319234642495 0.308682593200536 |
| Corneal scarring 3 7 1.8066242890598865 0.3380883611733909 |
| Eversion of lateral third of lower eyelids 2 4 2.408695652173913 0.3367519482112816 |
| Plagiocephaly 30 93 1.14803382527893 0.3026987140569575 |
| Schwannoma 3 7 1.8066242890598865 0.3380883611733909 |
| Nystagmus induced head nodding 6 16 1.4455458807769592 0.3186940748817347 |
| Hypertensive crisis 5 13 1.5056913290927352 0.3260613431922813 |
| Pulmonary venous hypertension 2 4 2.408695652173913 0.3367519482112816 |
| Synovitis 3 7 1.8066242890598865 0.3380883611733909 |
| Edema of the dorsum of feet 2 4 2.408695652173913 0.3367519482112816 |
| Absent nipple 2 4 2.408695652173913 0.3367519482112816 |
| Joint dislocation 85 276 1.0736046048804384 0.3167296257589371 |
| Abnormal placenta morphology 8 22 1.3768671007276905 0.3040254447272014 |
| Cystinuria 2 4 2.408695652173913 0.3367519482112816 |
| Bowing of the legs 47 150 1.1002587897868692 0.3234900296403848 |
| Pseudoarthrosis 3 7 1.8066242890598865 0.3380883611733909 |
| Panhypogammaglobulinemia 5 13 1.5056913290927352 0.3260613431922813 |
| Loss of ability to walk 12 35 1.2572512401517362 0.3168323165445775 |
| Heterotaxy 5 13 1.5056913290927352 0.3260613431922813 |
| Abnormality of neutrophil physiology 4 10 1.6059794734493529 0.3329485353303352 |
| Elbow ankylosis 2 4 2.408695652173913 0.3367519482112816 |
| Stenosis of the external auditory canal 7 19 1.4054718034617533 0.3112903729473412 |
| Recurrent pneumonia 18 55 1.1723768152819936 0.3370875040036433 |
| Fatiguable weakness of proximal limb muscles 4 10 1.6059794734493529 0.3329485353303352 |
| Young adult onset 11 32 1.262168335969074 0.325477646072867 |
| Neonatal asphyxia 4 10 1.6059794734493529 0.3329485353303352 |
| Blepharophimosis 46 146 1.109246435845214 0.3101287606744711 |
| Fatigable weakness of respiratory muscles 13 38 1.2531319234642495 0.308682593200536 |
| Tiger tail banding 3 7 1.8066242890598865 0.3380883611733909 |
| Systemic lupus erythematosus 5 13 1.5056913290927352 0.3260613431922813 |
| Fatigable weakness of bulbar muscles 14 42 1.2048354600402955 0.337964537576041 |
| Agenesis of corpus callosum 81 264 1.067556076161085 0.3364404151289114 |
| Mixed demyelinating and axonal polyneuropathy 4 10 1.6059794734493529 0.3329485353303352 |
| Neuronal loss in the cerebral cortex 4 10 1.6059794734493529 0.3329485353303352 |
| Fluctuations in consciousness 7 19 1.4054718034617533 0.3112903729473412 |
| Cortical thickening of long bone diaphyses 2 4 2.408695652173913 0.3367519482112816 |
| Proximal femoral epiphysiolysis 3 7 1.8066242890598865 0.3380883611733909 |
| Progressive extrapyramidal movement disorder 3 7 1.8066242890598865 0.3380883611733909 |
| Proximal femoral metaphyseal abnormality 3 7 1.8066242890598865 0.3380883611733909 |
| Gingival recession 2 4 2.408695652173913 0.3367519482112816 |
| Self injurious behavior 42 134 1.100604274134119 0.3349365358015448 |
| Polycystic liver disease 4 10 1.6059794734493529 0.3329485353303352 |
| Abnormality of the pharynx 42 134 1.100604274134119 0.3349365358015448 |
| Cheilitis 5 13 1.5056913290927352 0.3260613431922813 |
| Portal fibrosis 4 10 1.6059794734493529 0.3329485353303352 |
| Microphallus 5 13 1.5056913290927352 0.3260613431922813 |
| Decreased circulating copper concentration 2 4 2.408695652173913 0.3367519482112816 |
| Abnormality of the radioulnar joints 2 4 2.408695652173913 0.3367519482112816 |
| Myelofibrosis 3 7 1.8066242890598865 0.3380883611733909 |
| Central primitive neuroectodermal tumor 3 7 1.8066242890598865 0.3380883611733909 |
| Radioulnar dislocation 2 4 2.408695652173913 0.3367519482112816 |
| Retrocollis 3 7 1.8066242890598865 0.3380883611733909 |
| Metaphyseal chondrodysplasia 4 10 1.6059794734493529 0.3329485353303352 |
| Undetectable electroretinogram 5 13 1.5056913290927352 0.3260613431922813 |
| Spondylolysis 2 4 2.408695652173913 0.3367519482112816 |
| Oroticaciduria 2 4 2.408695652173913 0.3367519482112816 |
| Abnormal blistering of the skin 21 64 1.1771230421203416 0.3129198971917269 |
| Abnormally lax or hyperextensible skin 40 126 1.1215100523098254 0.3061050161032299 |
| Hypoplastic aortic arch 3 7 1.8066242890598865 0.3380883611733909 |
| Diffuse alveolar hemorrhage 5 13 1.5056913290927352 0.3260613431922813 |
| Periportal fibrosis 2 4 2.408695652173913 0.3367519482112816 |
| Multifocal seizures 4 10 1.6059794734493529 0.3329485353303352 |
| Equinus calcaneus 2 4 2.408695652173913 0.3367519482112816 |
| Pulmonary insufficiency 6 16 1.4455458807769592 0.3186940748817347 |
| Absence of pubertal development 4 10 1.6059794734493529 0.3329485353303352 |
| Axonal degeneration 6 16 1.4455458807769592 0.3186940748817347 |
| Arachnoid hemangiomatosis 6 16 1.4455458807769592 0.3186940748817347 |
| Medulloblastoma 6 16 1.4455458807769592 0.3186940748817347 |
| Motor deterioration 5 13 1.5056913290927352 0.3260613431922813 |
| Delayed ability to stand 3 7 1.8066242890598865 0.3380883611733909 |
| Contractures involving the joints of the feet 20 61 1.1756885401963038 0.320600401398509 |
| Macrodontia 19 58 1.1741140348607553 0.328644201602025 |
| Poor wound healing 5 13 1.5056913290927352 0.3260613431922813 |
| Spinal rigidity 13 38 1.2531319234642495 0.308682593200536 |
| Epicanthus inversus 3 7 1.8066242890598865 0.3380883611733909 |
| Rotary nystagmus 4 10 1.6059794734493529 0.3329485353303352 |
| Abnormal fallopian tube morphology 8 22 1.3768671007276905 0.3040254447272014 |
| Mastoiditis 2 4 2.408695652173913 0.3367519482112816 |
| Joint hemorrhage 2 4 2.408695652173913 0.3367519482112816 |
| Carpal bone hypoplasia 4 10 1.6059794734493529 0.3329485353303352 |
| Drowsiness 6 16 1.4455458807769592 0.3186940748817347 |
| Abnormality of the mastoid 2 4 2.408695652173913 0.3367519482112816 |
| Abnormal hepatic iron concentration 2 4 2.408695652173913 0.3367519482112816 |
| Horizontal pendular nystagmus 2 4 2.408695652173913 0.3367519482112816 |
| Generalized myoclonic atonic seizure 2 4 2.408695652173913 0.3367519482112816 |
| Monochromacy 2 4 2.408695652173913 0.3367519482112816 |
| Otosclerosis 2 4 2.408695652173913 0.3367519482112816 |
| Cortical myoclonus 2 4 2.408695652173913 0.3367519482112816 |
| Abnormality of the calf musculature 15 45 1.2049042660396372 0.3290014940242035 |
| Spontaneous hemolytic crises 2 4 2.408695652173913 0.3367519482112816 |
| Recurrent hand flapping 3 7 1.8066242890598865 0.3380883611733909 |
| Upper eyelid coloboma 2 4 2.408695652173913 0.3367519482112816 |
| Abnormal response to acth stimulation test 2 4 2.408695652173913 0.3367519482112816 |
| Eeg with focal spikes 4 10 1.6059794734493529 0.3329485353303352 |
| Cerebral palsy 10 29 1.2681351265487664 0.3346946052823376 |
| Pontocerebellar atrophy 2 4 2.408695652173913 0.3367519482112816 |
| Abnormality of salivation 39 123 1.1194426974989116 0.3122827841380365 |
| Decreased lacrimation 7 19 1.4054718034617533 0.3112903729473412 |
| Bulbar signs 11 32 1.262168335969074 0.325477646072867 |
| Pyoderma gangrenosum 2 4 2.408695652173913 0.3367519482112816 |
| Generalized muscle weakness 29 91 1.1274427618041871 0.3343127896261071 |
| Abnormal consumption behavior 25 78 1.1368767130256725 0.3386982590202095 |
| Urinary incontinence 38 121 1.1036617696241977 0.3404052502715363 |
| Abnormality of the plantar skin of foot 38 121 1.1036617696241977 0.3404052502715363 |
| Dilated fourth ventricle 38 121 1.1036617696241977 0.3404052502715363 |
| Posteriorly rotated ears 103 338 1.0572855217516184 0.3412266093620523 |
| Abnormal eating behavior 21 65 1.1502096019093664 0.3427241364075601 |
| Lower limb hypertonia 9 26 1.2755220760781685 0.3445813037071364 |
| Diffuse white matter abnormalities 9 26 1.2755220760781685 0.3445813037071364 |
| Eyelid coloboma 9 26 1.2755220760781685 0.3445813037071364 |
| Poor coordination 9 26 1.2755220760781685 0.3445813037071364 |
| Hyperthyroidism 9 26 1.2755220760781685 0.3445813037071364 |
| Anonychia 13 39 1.2047667002349782 0.3474857541722142 |
| Abnormality of the skull base 52 168 1.0807412620220502 0.349896653248231 |
| Hyperactive deep tendon reflexes 8 23 1.2848972296693475 0.3552680524966378 |
| Hallux valgus 16 49 1.168295861844249 0.3553497654682233 |
| Frontal cortical atrophy 16 49 1.168295861844249 0.3553497654682233 |
| Hypothermia 8 23 1.2848972296693475 0.3552680524966378 |
| Impaired antigen specific response 8 23 1.2848972296693475 0.3552680524966378 |
| Retinal dysplasia 8 23 1.2848972296693475 0.3552680524966378 |
| Abnormality of adrenal morphology 23 72 1.1311786418845071 0.3551807813288664 |
| Microcytic anemia 8 23 1.2848972296693475 0.3552680524966378 |
| Abnormal retinal vascular morphology 48 155 1.081420154408777 0.356268678137248 |
| Cleft lip 51 165 1.0784910252509887 0.3562272240389944 |
| Hip contracture 12 36 1.2046979865771812 0.3576475327844158 |
| Abnormal cerebellar vermis morphology 74 242 1.0620940631221645 0.3582240367613558 |
| Spastic gait 19 59 1.14460141271443 0.3604922114151318 |
| Abnormality of finger 255 852 1.0310871125815413 0.3608550152399033 |
| Abnormal testis morphology 207 690 1.034265196204155 0.3621844885985076 |
| Abnormality of refraction 137 454 1.0425221124044926 0.3627790521167426 |
| Chronic pulmonary obstruction 7 20 1.2971781986857365 0.3669342422205733 |
| Abnormal renal collecting system morphology 7 20 1.2971781986857365 0.3669342422205733 |
| Gastroparesis 7 20 1.2971781986857365 0.3669342422205733 |
| Hypokalemia 7 20 1.2971781986857365 0.3669342422205733 |
| Eeg with spike wave complexes 15 46 1.1658738500547206 0.3652785150667726 |
| Abnormality of urine catecholamine concentration 7 20 1.2971781986857365 0.3669342422205733 |
| Myotonia 7 20 1.2971781986857365 0.3669342422205733 |
| Short phalanx of the thumb 7 20 1.2971781986857365 0.3669342422205733 |
| Inappropriate laughter 7 20 1.2971781986857365 0.3669342422205733 |
| External ophthalmoplegia 15 46 1.1658738500547206 0.3652785150667726 |
| Mixed hearing impairment 7 20 1.2971781986857365 0.3669342422205733 |
| Abnormal light and dark adapted electroretinogram 7 20 1.2971781986857365 0.3669342422205733 |
| Aplasia hypoplasia of the fibula 7 20 1.2971781986857365 0.3669342422205733 |
| Limited hip movement 15 46 1.1658738500547206 0.3652785150667726 |
| Rhabdomyosarcoma 7 20 1.2971781986857365 0.3669342422205733 |
| Ulnar deviation of the hand or of fingers of the hand 11 33 1.2046293190204629 0.3685539296522604 |
| Shoulder girdle muscle weakness 11 33 1.2046293190204629 0.3685539296522604 |
| Supernumerary nipple 11 33 1.2046293190204629 0.3685539296522604 |
| Peptic ulcer 11 33 1.2046293190204629 0.3685539296522604 |
| Arthralgia 31 99 1.098674930965294 0.3689947562530041 |
| Prematurely aged appearance 37 119 1.0875077380215423 0.3699717230328373 |
| Long palpebral fissure 21 66 1.1244923145966566 0.3731497671509355 |
| Left ventricular hypertrophy 21 66 1.1244923145966566 0.3731497671509355 |
| Typical absence seizure 14 43 1.163127301359394 0.375831093557675 |
| Macular purpura 14 43 1.163127301359394 0.375831093557675 |
| Aplasia hypoplasia involving the vertebral column 14 43 1.163127301359394 0.375831093557675 |
| Dysgraphia 14 43 1.163127301359394 0.375831093557675 |
| Hypergonadotropic hypogonadism 14 43 1.163127301359394 0.375831093557675 |
| Abnormal astrocyte morphology 14 43 1.163127301359394 0.375831093557675 |
| Abnormal pons morphology 24 76 1.1121708480199046 0.3751547773045952 |
| Abnormality of small intestinal villus morphology 6 17 1.3139499482433172 0.3798383690403198 |
| Preauricular skin tag 17 53 1.1377777777777778 0.380146241881672 |
| Redundant neck skin 6 17 1.3139499482433172 0.3798383690403198 |
| Lipoma 6 17 1.3139499482433172 0.3798383690403198 |
| Acquired abnormal hair pattern 6 17 1.3139499482433172 0.3798383690403198 |
| Retinal hemorrhage 6 17 1.3139499482433172 0.3798383690403198 |
| Diastema 6 17 1.3139499482433172 0.3798383690403198 |
| Narrow nose 6 17 1.3139499482433172 0.3798383690403198 |
| Fatty replacement of skeletal muscle 6 17 1.3139499482433172 0.3798383690403198 |
| Flat cornea 6 17 1.3139499482433172 0.3798383690403198 |
| Hypochromic anemia 10 30 1.204560697518444 0.3803392248266751 |
| Pulmonary hemorrhage 6 17 1.3139499482433172 0.3798383690403198 |
| Abnormal sensory nerve conduction velocity 6 17 1.3139499482433172 0.3798383690403198 |
| Abnormal circulating ferritin concentration 6 17 1.3139499482433172 0.3798383690403198 |
| Limited elbow extension 10 30 1.204560697518444 0.3803392248266751 |
| Fused cervical vertebrae 6 17 1.3139499482433172 0.3798383690403198 |
| Autoimmune antibody positivity 10 30 1.204560697518444 0.3803392248266751 |
| Spina bifida occulta 17 53 1.1377777777777778 0.380146241881672 |
| Shuffling gait 10 30 1.204560697518444 0.3803392248266751 |
| Alopecia 39 126 1.0803858145427794 0.3774489617763646 |
| Cutis marmorata 17 53 1.1377777777777778 0.380146241881672 |
| Skin nodule 20 63 1.1206923534382922 0.3827748363927882 |
| Diarrhea 64 210 1.0566659181076428 0.3834509953234855 |
| Sporadic 23 73 1.1084001347254968 0.3843516098609348 |
| Abnormal lateral ventricle morphology 29 93 1.0919043199460006 0.3856229423645794 |
| Deviation of the hallux 29 93 1.0919043199460006 0.3856229423645794 |
| Facial asymmetry 32 103 1.0861058241339931 0.3856667153024288 |
| Recurrent fever 13 40 1.1599840861338009 0.3870958551660554 |
| Difficulty climbing stairs 13 40 1.1599840861338009 0.3870958551660554 |
| Abnormality of dental structure 69 227 1.0527029192307191 0.3870337634148095 |
| Aplasia hypoplasia of the 5th finger 13 40 1.1599840861338009 0.3870958551660554 |
| Patent ductus arteriosus 80 264 1.0481366459627328 0.3873911505047643 |
| Metrorrhagia 5 14 1.3382063013800545 0.394376048910494 |
| Facial cleft 5 14 1.3382063013800545 0.394376048910494 |
| Insidious onset 5 14 1.3382063013800545 0.394376048910494 |
| Aplasia hypoplasia involving the femoral head and neck 9 27 1.2044921220248073 0.3931811923219611 |
| Abnormal urinary color 5 14 1.3382063013800545 0.394376048910494 |
| Neoplasm of head and neck 9 27 1.2044921220248073 0.3931811923219611 |
| Pericarditis 5 14 1.3382063013800545 0.394376048910494 |
| Sagittal craniosynostosis 5 14 1.3382063013800545 0.394376048910494 |
| Stomach cancer 9 27 1.2044921220248073 0.3931811923219611 |
| Congenital nystagmus 16 50 1.133776091081594 0.3908133626078728 |
| Neoplasm of the endocrine system 34 110 1.0780399274047188 0.3935477324076845 |
| Abnormality of the nasal septum 5 14 1.3382063013800545 0.394376048910494 |
| Ovarian neoplasm 19 60 1.1165284306728032 0.3928811401525304 |
| Irregular epiphyses 5 14 1.3382063013800545 0.394376048910494 |
| Oromandibular dystonia 5 14 1.3382063013800545 0.394376048910494 |
| Pelvic kidney 9 27 1.2044921220248073 0.3931811923219611 |
| Ankylosis 5 14 1.3382063013800545 0.394376048910494 |
| Abnormal renal tubule morphology 22 70 1.104320987654321 0.393955373471707 |
| Abnormality of earlobe 25 80 1.095229340932071 0.3943881842289277 |
| Progressive night blindness 16 50 1.133776091081594 0.3908133626078728 |
| Multiple lentigines 5 14 1.3382063013800545 0.394376048910494 |
| Abnormal megakaryocyte morphology 5 14 1.3382063013800545 0.394376048910494 |
| Decreased circulating iga level 9 27 1.2044921220248073 0.3931811923219611 |
| Ascending tubular aorta aneurysm 5 14 1.3382063013800545 0.394376048910494 |
| Renal cortical cysts 5 14 1.3382063013800545 0.394376048910494 |
| Gastritis 5 14 1.3382063013800545 0.394376048910494 |
| Gaze evoked nystagmus 9 27 1.2044921220248073 0.3931811923219611 |
| Corneal ulceration 5 14 1.3382063013800545 0.394376048910494 |
| Hypomimic face 9 27 1.2044921220248073 0.3931811923219611 |
| Ankyloblepharon 5 14 1.3382063013800545 0.394376048910494 |
| Abnormal ureter physiology 48 157 1.061278420422816 0.3961720682394997 |
| Pneumonia 48 157 1.061278420422816 0.3961720682394997 |
| Sloping forehead 45 147 1.0631948741491846 0.3974201103294904 |
| Contractures of the joints of the upper limbs 67 221 1.0486180486180483 0.3992512736857008 |
| Aplasia hypoplasia of the clavicles 12 37 1.1563489932885906 0.3991826394486121 |
| Amenorrhea 33 107 1.0745503868180448 0.4018954043086515 |
| Cyanosis 18 57 1.1119445450312968 0.40351726783338 |
| Renal hypoplasia 30 97 1.0788898182954236 0.4027729471647185 |
| Abnormal acetabulum morphology 18 57 1.1119445450312968 0.40351726783338 |
| Abnormal size of the palpebral fissures 80 265 1.0423225423225424 0.4029640369357659 |
| Facial edema 27 87 1.0842495784148398 0.4034735358646322 |
| Cough 24 77 1.0910339215785994 0.4039218937739117 |
| Pseudoepiphyses 4 11 1.3763625932300632 0.4112051980501888 |
| Cholestatic liver disease 4 11 1.3763625932300632 0.4112051980501888 |
| Anotia 4 11 1.3763625932300632 0.4112051980501888 |
| Flat forehead 4 11 1.3763625932300632 0.4112051980501888 |
| Squamous cell carcinoma of the skin 4 11 1.3763625932300632 0.4112051980501888 |
| Eeg with multifocal slow activity 8 24 1.2044235924932976 0.407322580842007 |
| Microscopic hematuria 4 11 1.3763625932300632 0.4112051980501888 |
| Chronic hepatic failure 4 11 1.3763625932300632 0.4112051980501888 |
| Abnormal aortic valve physiology 35 114 1.067516256212463 0.4091646709421948 |
| Multiple suture craniosynostosis 4 11 1.3763625932300632 0.4112051980501888 |
| Microglossia 4 11 1.3763625932300632 0.4112051980501888 |
| Macroorchidism 4 11 1.3763625932300632 0.4112051980501888 |
| Absent thumbnail 4 11 1.3763625932300632 0.4112051980501888 |
| Long foot 8 24 1.2044235924932976 0.407322580842007 |
| Parathyroid adenoma 4 11 1.3763625932300632 0.4112051980501888 |
| Hyperorality 4 11 1.3763625932300632 0.4112051980501888 |
| Phimosis 4 11 1.3763625932300632 0.4112051980501888 |
| Erythroid hyperplasia 4 11 1.3763625932300632 0.4112051980501888 |
| Abnormal morphology of myocardial trabeculae 4 11 1.3763625932300632 0.4112051980501888 |
| Abnormal ossification involving the femoral head and neck 4 11 1.3763625932300632 0.4112051980501888 |
| Hypopituitarism 32 104 1.070870870870871 0.4105084702080903 |
| Impaired visuospatial constructive cognition 8 24 1.2044235924932976 0.407322580842007 |
| Abnormal sternal ossification 4 11 1.3763625932300632 0.4112051980501888 |
| Fair hair 4 11 1.3763625932300632 0.4112051980501888 |
| Astrocytoma 8 24 1.2044235924932976 0.407322580842007 |
| Central apnea 8 24 1.2044235924932976 0.407322580842007 |
| Tricuspid atresia 4 11 1.3763625932300632 0.4112051980501888 |
| Radial bowing 4 11 1.3763625932300632 0.4112051980501888 |
| Skin appendage neoplasm 4 11 1.3763625932300632 0.4112051980501888 |
| Aplasia hypoplasia of the cerebellar vermis 65 215 1.0443229700489691 0.4118874707760901 |
| Neoplasm of the adrenal gland 11 34 1.152093694849992 0.412230427377431 |
| Subcutaneous nodule 17 54 1.1068725868725868 0.414739861915147 |
| Intestinal polyp 17 54 1.1068725868725868 0.414739861915147 |
| Abnormal cortical bone morphology 17 54 1.1068725868725868 0.414739861915147 |
| Radioulnar synostosis 20 64 1.0950691300624007 0.4145270814862068 |
| Headache 62 205 1.0448507124275042 0.4137783810814645 |
| Excessive daytime somnolence 14 44 1.124199686590553 0.4141868477994778 |
| Abnormality of subcutaneous fat tissue 14 44 1.124199686590553 0.4141868477994778 |
| Abnormal uvula morphology 40 131 1.0591441079245958 0.4142259774431254 |
| Complex febrile seizure 1 5 0.6018054162487463 0.8239879431862632 |
| Triceps weakness 1 7 0.401092165385044 0.9121715035098086 |
| Recurrent gastroenteritis 3 8 1.4450986952157912 0.4315618290558272 |
| Blistering by histological location 1 7 0.401092165385044 0.9121715035098086 |
| Duodenal stenosis 4 24 0.4808567603748326 0.9514162494820924 |
| Abnormality of the eustachian tube 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal vitamin b12 level 5 17 1.0032362459546926 0.5884307536605788 |
| Simple febrile seizure 3 16 0.5551895411380189 0.8908482493424653 |
| Happy demeanor 3 14 0.6563155813741294 0.8262352177182655 |
| Neoplasm of the inner ear 2 5 1.6055741360089186 0.458274002951101 |
| Decreased prealbumin level 0 1 0.0 1.0 |
| Abnormal blood folate concentration 0 2 0.0 1.0 |
| Abnormal humerus morphology 2 8 0.8024526198439242 0.7316356285104274 |
| Myoclonic absence seizure 1 5 0.6018054162487463 0.8239879431862632 |
| Focal motor seizure 20 65 1.0705847166143263 0.4464395015231815 |
| Neoplasm of fatty tissue 9 32 0.9419901179145592 0.6259959703187616 |
| Decreased thyroid stimulating hormone level 0 2 0.0 1.0 |
| Concave nasal ridge 1 10 0.2672833314759092 0.969051322224564 |
| Focal sensory seizure 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal prolactin level 4 19 0.6415885765283356 0.8535545886886166 |
| Abnormal circulating aldosterone 0 5 0.0 1.0 |
| Abnormal renal vascular morphology 2 18 0.3005016722408026 0.9837457247494442 |
| Focal sensory seizure with visual features 0 1 0.0 1.0 |
| Focal tonic seizure 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal circulating inhibin level 1 2 2.4082246740220663 0.5008051893494083 |
| Low grade fever 1 5 0.6018054162487463 0.8239879431862632 |
| Increased sensitivity to ionizing radiation 4 14 0.9630522088353414 0.624675255970463 |
| Abnormality of dermal melanosomes 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal circulating renin 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal thyroid stimulating hormone level 2 14 0.400891861761427 0.947457693040818 |
| Abnormal uterus morphology 29 112 0.8397098349523643 0.8182495594324756 |
| Palmar telangiectasia 2 6 1.2040133779264215 0.5656089450744413 |
| Focal autonomic seizure 0 3 0.0 1.0 |
| Abnormality of blood circulation 62 217 0.962320819112628 0.6252270534810863 |
| Abnormality of the nasal dorsum 45 162 0.9249301767116492 0.6984346826481113 |
| Abnormality of circulating adrenocorticotropin level 6 29 0.6273624741547511 0.894060359590428 |
| Abnormal upper limb bone morphology 89 350 0.8155481909980823 0.9566413252561188 |
| Abnormality of the intrahepatic bile duct 4 12 1.2041499330655958 0.4872403627234796 |
| Abnormal lower limb bone morphology 151 545 0.91866380072792 0.8187878302142874 |
| Abnormal hemidiaphragm morphology 0 5 0.0 1.0 |
| Onychogryposis of fingernail 0 4 0.0 1.0 |
| Chorioretinal hypopigmentation 2 6 1.2040133779264215 0.5656089450744413 |
| Rectal polyposis 0 3 0.0 1.0 |
| Connective tissue nevi 2 5 1.6055741360089186 0.458274002951101 |
| Abnormality of the helix 36 121 1.0199952240706838 0.495170975393064 |
| Sclerosis of finger phalanx 0 8 0.0 1.0 |
| Clinodactyly of the 4th finger 0 3 0.0 1.0 |
| Open operculum 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal renal resorption 3 8 1.4450986952157912 0.4315618290558272 |
| Abnormal renal medulla morphology 9 44 0.6179876442699105 0.9328378360580994 |
| Flushing 10 36 0.925811277923954 0.6433955278603966 |
| Decreased urine output 2 8 0.8024526198439242 0.7316356285104274 |
| Abnormality of renal excretion 7 22 1.1239084310441094 0.4786794787334251 |
| Narrow foramen obturatorium 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal perifollicular morphology 0 2 0.0 1.0 |
| Clinodactyly of the 3rd finger 0 2 0.0 1.0 |
| Amyloidosis 2 16 0.3435260391782131 0.9705996719890696 |
| Shyness 3 11 0.9028103044496488 0.6702945765004975 |
| Hyperesthesia 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal shape of the palpebral fissure 9 42 0.6556242952488343 0.9064520050447792 |
| Clinodactyly of the 2nd finger 0 4 0.0 1.0 |
| Finger clinodactyly 74 286 0.836396084162065 0.9164686945569632 |
| Prominent coccyx 0 2 0.0 1.0 |
| Cutaneous abscess 3 13 0.7220475075276012 0.7830437973449951 |
| Abnormal forearm bone morphology 18 80 0.6972037225849839 0.9327645932760774 |
| Abnormal number of permanent teeth 1 20 0.1264319273610304 0.9990460817539482 |
| Agenesis of premolar 0 6 0.0 1.0 |
| Abnormal bowman capsule morphology 0 3 0.0 1.0 |
| Abnormality of tumor necrosis factor secretion 0 1 0.0 1.0 |
| Abnormality of cytokine secretion 0 2 0.0 1.0 |
| Abnormality of immune serum protein physiology 6 18 1.204286671131949 0.4410492397467304 |
| Aplasia hypoplasia of the vagina 3 16 0.5551895411380189 0.8908482493424653 |
| Impaired oropharyngeal swallow response 2 11 0.5347454477889261 0.8781437590361336 |
| Nuchal rigidity 0 7 0.0 1.0 |
| Anteverted ears 2 7 0.963076923076923 0.6566171786481523 |
| Chronic sinusitis 3 23 0.3605219136835061 0.9817197591964204 |
| Recurrent sinusitis 3 28 0.2882167949146872 0.9953943626401444 |
| Abnormality of blood volume homeostasis 3 19 0.4509033121445299 0.9479246404767652 |
| Viral encephalitis 2 7 0.963076923076923 0.6566171786481523 |
| Irregular dentition 0 3 0.0 1.0 |
| Intestinal atresia 9 40 0.6981172882895548 0.8718012139583292 |
| Eeg with focal sharp slow waves 1 7 0.401092165385044 0.9121715035098086 |
| Thinning of descemet membrane 0 3 0.0 1.0 |
| Enlarged ovaries 4 12 1.2041499330655958 0.4872403627234796 |
| Internally nucleated skeletal muscle fibers 0 4 0.0 1.0 |
| Swollen lip 0 1 0.0 1.0 |
| Productive cough 6 29 0.6273624741547511 0.894060359590428 |
| Increased overbite 1 5 0.6018054162487463 0.8239879431862632 |
| Incisor macrodontia 15 48 1.094909457354872 0.4392232039160477 |
| Abnormal subclavian artery morphology 1 7 0.401092165385044 0.9121715035098086 |
| Abnormality of globe size 56 231 0.7661035422343324 0.9656229992194724 |
| Abnormality of canine 1 10 0.2672833314759092 0.969051322224564 |
| Abnormality of dental color 3 16 0.5551895411380189 0.8908482493424653 |
| Supernumerary tooth 6 29 0.6273624741547511 0.894060359590428 |
| Conical incisor 0 17 0.0 1.0 |
| Abnormal number of incisors 6 30 0.601138647019424 0.9122157934436538 |
| Delirium 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal incisor morphology 15 68 0.6798347076010419 0.9309043853496082 |
| Abnormal radioactive iodine uptake test result 0 1 0.0 1.0 |
| Abnormal left ventricular outflow tract morphology 4 15 0.8753803091152489 0.6838446456385155 |
| Bone marrow hypercellularity 8 25 1.1334174420438416 0.4592530866816477 |
| Abnormal sweat homeostasis 1 2 2.4082246740220663 0.5008051893494083 |
| Tooth abscess 0 2 0.0 1.0 |
| Renal fibrosis 1 10 0.2672833314759092 0.969051322224564 |
| Maternal teratogenic exposure 0 3 0.0 1.0 |
| Ear pain 2 11 0.5347454477889261 0.8781437590361336 |
| Abnormality of the protein c anticoagulant pathway 2 8 0.8024526198439242 0.7316356285104274 |
| Aplasia hypoplasia of the colon 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal serum interleukin level 2 10 0.6016722408026756 0.8403529985689939 |
| Increased circulating interleukin 6 0 1 0.0 1.0 |
| Halitosis 0 2 0.0 1.0 |
| Blue nevus 1 3 1.2039451688398528 0.6473218534129999 |
| Renovascular hypertension 7 22 1.1239084310441094 0.4786794787334251 |
| Fetal ultrasound soft marker 15 74 0.6101865716253992 0.971407041365739 |
| Long thorax 2 8 0.8024526198439242 0.7316356285104274 |
| Intestinal fistula 5 25 0.6012721794442585 0.8979888857555822 |
| Anomic aphasia 1 6 0.4813774657305249 0.8756637428026797 |
| Death in adolescence 2 6 1.2040133779264215 0.5656089450744413 |
| Photopsia 1 8 0.3437455222811291 0.9379623427931464 |
| Aplasia of the semicircular canal 2 14 0.400891861761427 0.947457693040818 |
| Abnormality of the internal auditory canal 3 15 0.6015389762462362 0.8618328607283439 |
| Narrow internal auditory canal 3 14 0.6563155813741294 0.8262352177182655 |
| Absent foveal reflex 0 3 0.0 1.0 |
| Enlarged tonsils 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormal insulin level 24 84 0.9628032345013476 0.6030107510866606 |
| Sepsis 17 60 0.9516279069767442 0.6166303227711053 |
| Scaphocephaly 4 24 0.4808567603748326 0.9514162494820924 |
| Increased c peptide level 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal placental membrane morphology 2 6 1.2040133779264215 0.5656089450744413 |
| Reduced c peptide level 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal c peptide level 4 16 0.8023203926818384 0.7360995100844776 |
| Placental abruption 0 2 0.0 1.0 |
| Hypoinsulinemia 1 8 0.3437455222811291 0.9379623427931464 |
| Proportionate tall stature 1 15 0.1717055929693843 0.9945637612889204 |
| Abnormality of the periungual region 4 12 1.2041499330655958 0.4872403627234796 |
| Neoplasm of the middle ear 2 7 0.963076923076923 0.6566171786481523 |
| Intraventricular hemorrhage 0 5 0.0 1.0 |
| Abnormal posterior segment imaging 4 19 0.6415885765283356 0.8535545886886166 |
| Nasal regurgitation 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal visual field test 3 14 0.6563155813741294 0.8262352177182655 |
| Nasogastric tube feeding in infancy 8 29 0.917017745435976 0.6507823648111599 |
| Gastrostomy tube feeding in infancy 30 98 1.062874846089685 0.428587969712761 |
| Color vision test abnormality 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal fundus autofluorescence imaging 2 12 0.4812040133779264 0.9075099812904824 |
| Childhood onset sensorineural hearing impairment 1 8 0.3437455222811291 0.9379623427931464 |
| Peripheral arteriovenous fistula 0 4 0.0 1.0 |
| Breast aplasia 3 15 0.6015389762462362 0.8618328607283439 |
| Abnormal size of the dental root 0 8 0.0 1.0 |
| Paracentral scotoma 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormal lacrimal punctum morphology 0 3 0.0 1.0 |
| Abnormal lacrimal duct morphology 7 29 0.7655550479671083 0.7912410887123539 |
| Visual acuity test abnormality 2 15 0.3700025726781579 0.9606307441557927 |
| Wheezing 1 18 0.1413456054437823 0.9980862756412444 |
| Facial tics 0 3 0.0 1.0 |
| Photoreceptor layer loss on macular oct 2 5 1.6055741360089186 0.458274002951101 |
| Knee clonus 1 5 0.6018054162487463 0.8239879431862632 |
| Sacrococcygeal teratoma 2 6 1.2040133779264215 0.5656089450744413 |
| Fingernail dysplasia 1 10 0.2672833314759092 0.969051322224564 |
| Elevated hemoglobin a1c 2 8 0.8024526198439242 0.7316356285104274 |
| Toenail dysplasia 1 8 0.3437455222811291 0.9379623427931464 |
| Vein of galen aneurysmal malformation 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal optical coherence tomography 2 8 0.8024526198439242 0.7316356285104274 |
| Brain neoplasm 2 11 0.5347454477889261 0.8781437590361336 |
| Fetal onset 6 19 1.1114946674223298 0.500937947493563 |
| Retinal neovascularization 1 4 0.8025186671124485 0.7508451551458319 |
| Prostate neoplasm 6 29 0.6273624741547511 0.894060359590428 |
| Hyperautofluorescent macular lesion 0 6 0.0 1.0 |
| Hypersomnia 1 6 0.4813774657305249 0.8756637428026797 |
| Perifoveal ring of hyperautofluorescence 1 2 2.4082246740220663 0.5008051893494083 |
| Esophageal carcinoma 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormal breath sound 9 47 0.5689609541789439 0.9602695077490015 |
| Morphological abnormality of the vestibule of the inner ear 2 17 0.3205797101449275 0.9781099893195382 |
| Patchy hypopigmentation of hair 4 15 0.8753803091152489 0.6838446456385155 |
| Arteria lusoria 1 5 0.6018054162487463 0.8239879431862632 |
| Broad thumb 25 96 0.8465182737815501 0.7943893730167149 |
| Slender toe 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormality of long bone morphology 156 549 0.9533156041731716 0.7039028098304155 |
| Lingual dystonia 1 4 0.8025186671124485 0.7508451551458319 |
| Bicoronal synostosis 0 4 0.0 1.0 |
| Prominent digit pad 18 59 1.0574081060245706 0.4708911927950181 |
| Septo optic dysplasia 2 11 0.5347454477889261 0.8781437590361336 |
| Sclerosing cholangitis 0 4 0.0 1.0 |
| Postexertional malaise 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal systemic blood pressure 85 302 0.9414665696499313 0.6993784871063581 |
| Anterior plagiocephaly 1 4 0.8025186671124485 0.7508451551458319 |
| Generalized osteoporosis 3 8 1.4450986952157912 0.4315618290558272 |
| Recurrent cutaneous abscess formation 1 5 0.6018054162487463 0.8239879431862632 |
| Acroparesthesia 1 5 0.6018054162487463 0.8239879431862632 |
| Metopic synostosis 3 9 1.2040816326530612 0.5196282464541333 |
| Anaphylactic shock 1 5 0.6018054162487463 0.8239879431862632 |
| Acne inversa 3 8 1.4450986952157912 0.4315618290558272 |
| Eeg with focal spike waves 2 8 0.8024526198439242 0.7316356285104274 |
| Eeg with continuous slow activity 2 8 0.8024526198439242 0.7316356285104274 |
| Abnormal shape of the occiput 25 83 1.0381437188382552 0.4795677841706032 |
| Short face 3 12 0.8023865283818445 0.7313126477609548 |
| Aplasia of the musculature 0 4 0.0 1.0 |
| Abnormal ovarian morphology 26 107 0.7708681934350624 0.897757870480433 |
| Abnormality of urine calcium concentration 12 39 1.0703952274422073 0.4824923970858958 |
| Horizontal eyebrow 5 24 0.6330061846950822 0.8757671481753739 |
| Abnormal transferrin saturation 1 3 1.2039451688398528 0.6473218534129999 |
| Microtia third degree 2 10 0.6016722408026756 0.8403529985689939 |
| Paraproteinemia 0 3 0.0 1.0 |
| Underdeveloped tragus 2 5 1.6055741360089186 0.458274002951101 |
| Acral blistering 2 5 1.6055741360089186 0.458274002951101 |
| Recurrent mycobacterial infections 2 23 0.2287943940117853 0.9964487417400965 |
| Neoplasm of the male external genitalia 9 28 1.1409390052402208 0.4419850781713734 |
| Abnormal response to insulin tolerance test 1 3 1.2039451688398528 0.6473218534129999 |
| Localized osteoporosis 2 7 0.963076923076923 0.6566171786481523 |
| Glomerular deposits 2 8 0.8024526198439242 0.7316356285104274 |
| Lymphocytosis 3 12 0.8023865283818445 0.7313126477609548 |
| Abnormality of pulmonary circulation 24 107 0.6937615691878024 0.9570626597628086 |
| Abnormal cardiac ventricular function 16 76 0.6401433691756272 0.9609405900706504 |
| Generalized hypopigmentation of hair 8 28 0.9630026809651474 0.6065019306411906 |
| Addictive behavior 6 19 1.1114946674223298 0.500937947493563 |
| Dry hair 3 11 0.9028103044496488 0.6702945765004975 |
| Abnormality on pulmonary function testing 17 73 0.7293877551020408 0.9001792503214563 |
| Encephalomalacia 0 5 0.0 1.0 |
| Choking episodes 2 9 0.6877209746774964 0.7922091662556401 |
| Knee pain 0 6 0.0 1.0 |
| Non medullary thyroid carcinoma 1 5 0.6018054162487463 0.8239879431862632 |
| Shoulder pain 1 5 0.6018054162487463 0.8239879431862632 |
| Crackles 3 10 1.031926587965397 0.5996338369181741 |
| White hair 4 13 1.0702067529376766 0.5588754825262198 |
| Abnormality of venous physiology 0 5 0.0 1.0 |
| Orthokeratosis 0 3 0.0 1.0 |
| Interlobular septal thickening 0 2 0.0 1.0 |
| Round ear 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal pelvis bone morphology 1 17 0.1502006018054162 0.9972895783561956 |
| Abnormality of the periosteum 0 3 0.0 1.0 |
| Abnormality of hair growth 5 16 1.0945917156161549 0.5270800523063662 |
| Abnormality of the tongue muscle 1 6 0.4813774657305249 0.8756637428026797 |
| Frontal hirsutism 1 2 2.4082246740220663 0.5008051893494083 |
| Malignant neoplasm of the central nervous system 22 74 1.0188034188034187 0.5149946613202213 |
| Galactorrhea 1 7 0.401092165385044 0.9121715035098086 |
| Benign neoplasm of the central nervous system 20 79 0.8149508406140931 0.8187609460323371 |
| Long upper lip 1 6 0.4813774657305249 0.8756637428026797 |
| Pruritis on hand 0 1 0.0 1.0 |
| Macrothrombocytopenia 0 2 0.0 1.0 |
| Osteochondrosis 1 9 0.3007355399531929 0.9561814898792792 |
| Increased head circumference 109 370 1.005746461952282 0.5005542722170475 |
| Coronary artery aneurysm 0 4 0.0 1.0 |
| Neoplasm of the small intestine 4 16 0.8023203926818384 0.7360995100844776 |
| Abnormal cardiomyocyte morphology 2 5 1.6055741360089186 0.458274002951101 |
| Narrow jaw 1 7 0.401092165385044 0.9121715035098086 |
| Abnormal circulating sex hormone concentration 19 63 1.0399657523774577 0.4909973387527556 |
| Angiofibromas 4 21 0.56595007480904 0.9043043121411438 |
| Fibroadenoma of the breast 2 8 0.8024526198439242 0.7316356285104274 |
| Malar prominence 2 6 1.2040133779264215 0.5656089450744413 |
| Cutaneous syndactyly of toes 3 12 0.8023865283818445 0.7313126477609548 |
| Status epilepticus with prominent motor symptoms 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormal sputum 5 45 0.2997991295614329 0.9991003185298838 |
| Skewfoot 0 5 0.0 1.0 |
| Anterior pituitary dysgenesis 2 14 0.400891861761427 0.947457693040818 |
| Abnormality of the epiphyses of the feet 0 3 0.0 1.0 |
| Schizencephaly 1 5 0.6018054162487463 0.8239879431862632 |
| Elevated alkaline phosphatase of bone origin 1 4 0.8025186671124485 0.7508451551458319 |
| Focal motor status epilepticus 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal circulating igg level 13 47 0.920265387121616 0.653833930646347 |
| Non convulsive status epilepticus without coma 0 8 0.0 1.0 |
| Anterior pituitary agenesis 0 3 0.0 1.0 |
| Abnormality of the nasal cavity 1 9 0.3007355399531929 0.9561814898792792 |
| Decreased vigilance 0 6 0.0 1.0 |
| Skin tags 18 64 0.9418145668255314 0.6314200034133484 |
| Hamartoma of the eye 8 26 1.0703008638665474 0.5102183235563419 |
| Pulmonary cyst 5 16 1.0945917156161549 0.5270800523063662 |
| Left ventricular outflow tract obstruction 1 5 0.6018054162487463 0.8239879431862632 |
| Cone shaped epiphysis 8 61 0.3617279579139056 0.9992025957803752 |
| Gastrointestinal eosinophilia 0 5 0.0 1.0 |
| Abnormal pulse 0 3 0.0 1.0 |
| Palmar pits 2 7 0.963076923076923 0.6566171786481523 |
| Enlarged epiphyses 0 6 0.0 1.0 |
| Hypereosinophilia 0 1 0.0 1.0 |
| Ivory epiphyses 0 10 0.0 1.0 |
| Focal cortical dysplasia type ii 1 5 0.6018054162487463 0.8239879431862632 |
| Focal cortical dysplasia 2 11 0.5347454477889261 0.8781437590361336 |
| Small epiphyses 3 11 0.9028103044496488 0.6702945765004975 |
| Type 2 muscle fiber predominance 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal renal insterstitial morphology 11 43 0.8270295202952029 0.7576100485909272 |
| Hamartoma 17 62 0.909079365079365 0.6766428869924289 |
| Cervical spine instability 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal circulating iga level 12 39 1.0703952274422073 0.4824923970858958 |
| Elevated tissue non specific alkaline phosphatase 2 8 0.8024526198439242 0.7316356285104274 |
| Pulverulent cataract 1 3 1.2039451688398528 0.6473218534129999 |
| Polar cataract 3 8 1.4450986952157912 0.4315618290558272 |
| Increased circulating antibody level 14 54 0.841974479516454 0.75552603439674 |
| Infection related seizure 20 71 0.9438418705301772 0.630408640314177 |
| Abnormal neural tube morphology 39 143 0.9016254656281748 0.736614980575491 |
| Enuresis nocturna 0 2 0.0 1.0 |
| Ocular flutter 0 4 0.0 1.0 |
| Abnormal cellular composition of bronchoalveolar fluid 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormal t cell activation 1 6 0.4813774657305249 0.8756637428026797 |
| Male reproductive system neoplasm 13 51 0.8229359905302026 0.7735800151180123 |
| Naevus flammeus of the eyelid 1 7 0.401092165385044 0.9121715035098086 |
| Pedal edema 8 26 1.0703008638665474 0.5102183235563419 |
| Aplasia of the phalanges of the toes 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal cranial nerve physiology 65 228 0.9592622945665592 0.6350767071144271 |
| Abnormal circulating ige level 5 21 0.7520087043856712 0.7833805412598392 |
| Abnormal foot bone ossification 2 9 0.6877209746774964 0.7922091662556401 |
| Increased level of l fucose in urine 1 11 0.2405215646940822 0.9781420785502122 |
| Hyperketonemia 1 5 0.6018054162487463 0.8239879431862632 |
| Heterotropia 45 159 0.9496722804636294 0.6437842545436987 |
| Hippocampal atrophy 0 2 0.0 1.0 |
| Flat nasal alae 2 7 0.963076923076923 0.6566171786481523 |
| Heterophoria 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal meningeal morphology 21 97 0.6629346844053925 0.9659774365189406 |
| Usual interstitial pneumonia 0 2 0.0 1.0 |
| Abnormal dura mater morphology 2 11 0.5347454477889261 0.8781437590361336 |
| Abnormal pulmonary thoracic imaging finding 19 71 0.8789878133975005 0.7253807823456556 |
| Spastic paraparetic gait 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormal hand bone ossification 5 21 0.7520087043856712 0.7833805412598392 |
| Focal non motor seizure 10 40 0.8019226469930695 0.7788895119119675 |
| Nocturnal seizures 2 6 1.2040133779264215 0.5656089450744413 |
| Bilateral coxa valga 2 7 0.963076923076923 0.6566171786481523 |
| Diminished ability to concentrate 2 8 0.8024526198439242 0.7316356285104274 |
| Micrographia 2 10 0.6016722408026756 0.8403529985689939 |
| Decreased specific antibody response to polysaccharide vaccine 0 3 0.0 1.0 |
| Bifid epiglottis 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormality of frontalis muscle belly 1 6 0.4813774657305249 0.8756637428026797 |
| Unusual skin infection 1 4 0.8025186671124485 0.7508451551458319 |
| Aplasia hypoplasia of the bladder 1 10 0.2672833314759092 0.969051322224564 |
| Molluscum contagiosum 1 4 0.8025186671124485 0.7508451551458319 |
| Keratosis pilaris 2 16 0.3435260391782131 0.9705996719890696 |
| Urethral valve 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormality of cartilage of external ear 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal circulating globulin level 0 4 0.0 1.0 |
| Absent palmar crease 1 4 0.8025186671124485 0.7508451551458319 |
| Sirenomelia 1 8 0.3437455222811291 0.9379623427931464 |
| Patellar subluxation 1 5 0.6018054162487463 0.8239879431862632 |
| Hyperextensibility of the knee 0 24 0.0 1.0 |
| Limitation of knee mobility 4 20 0.6014056224899599 0.8812712129159418 |
| Fibular bowing 0 3 0.0 1.0 |
| Aplasia hypoplasia of the palmar creases 3 8 1.4450986952157912 0.4315618290558272 |
| Abnormal mandibular ramus morphology 1 3 1.2039451688398528 0.6473218534129999 |
| Unusual infection by anatomical site 12 47 0.8248130393096836 0.765806154020295 |
| Absent testis 4 24 0.4808567603748326 0.9514162494820924 |
| Tricuspid stenosis 1 3 1.2039451688398528 0.6473218534129999 |
| Anal fistula 0 5 0.0 1.0 |
| Esophageal stenosis 6 19 1.1114946674223298 0.500937947493563 |
| Aplasia hypoplasia of the spleen 4 39 0.2742015681774717 0.998971274943062 |
| Acetabular spurs 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal greater sciatic notch morphology 4 17 0.7405004633920297 0.7815360505152051 |
| Abnormal odontoid tissue morphology 40 152 0.85801393728223 0.8196852349835093 |
| Female pseudohermaphroditism 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of the female genitalia 122 420 0.9851179758202184 0.5732371321607272 |
| Aplasia hypoplasia of the ovary 12 55 0.6706102700171688 0.9192907849897108 |
| Streak ovary 6 20 1.031958664242656 0.5583681068930001 |
| Precocious puberty in females 0 6 0.0 1.0 |
| Bronchoconstriction 0 1 0.0 1.0 |
| Abnormal internal carotid artery morphology 0 7 0.0 1.0 |
| True hermaphroditism 0 14 0.0 1.0 |
| Aplasia hypoplasia of the epiglottis 2 8 0.8024526198439242 0.7316356285104274 |
| Metatarsus valgus 1 20 0.1264319273610304 0.9990460817539482 |
| Hyperpituitarism 17 61 0.9298701298701298 0.647285740891159 |
| Conjunctival icterus 0 2 0.0 1.0 |
| Saccadic oscillation 2 9 0.6877209746774964 0.7922091662556401 |
| Muscle flaccidity 2 8 0.8024526198439242 0.7316356285104274 |
| Percussion myotonia 0 4 0.0 1.0 |
| Abnormal cardiac exercise stress test 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal cardiac test 16 75 0.6510843812648077 0.9548546832867076 |
| Abnormal growth hormone level 25 91 0.9112867808519982 0.6906026252819024 |
| Periventricular nodular heterotopia 1 12 0.2186255736907692 0.9845631783003476 |
| Oculogyric crisis 11 35 1.1039360393603936 0.4559545615058867 |
| Partial absence of specific antibody response to unconjugated pneumococcus vaccine 0 2 0.0 1.0 |
| Cutaneous finger syndactyly 3 20 0.4243205478912876 0.9596870100427658 |
| Abnormal c reactive protein level 3 19 0.4509033121445299 0.9479246404767652 |
| Overlapping fingers 7 24 0.99140802049463 0.5842864352535018 |
| Keloids 1 6 0.4813774657305249 0.8756637428026797 |
| Subcortical heterotopia 3 11 0.9028103044496488 0.6702945765004975 |
| Decreased specific antibody response to vaccination 3 12 0.8023865283818445 0.7313126477609548 |
| Reduced forced expiratory volume in one second 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal blood carbon dioxide level 1 7 0.401092165385044 0.9121715035098086 |
| Hypergastrinemia 0 6 0.0 1.0 |
| Thymus hyperplasia 0 5 0.0 1.0 |
| Alexia 2 7 0.963076923076923 0.6566171786481523 |
| Agnosia 7 27 0.8423450586264657 0.7196284267594591 |
| Finger agnosia 2 5 1.6055741360089186 0.458274002951101 |
| Decreased circulating igg subclass level 2 6 1.2040133779264215 0.5656089450744413 |
| Vertical nystagmus 2 9 0.6877209746774964 0.7922091662556401 |
| Echolalia 8 34 0.7401526087853165 0.8241602173122456 |
| Decreased circulating total igg 1 8 0.3437455222811291 0.9379623427931464 |
| Sleep apnea 21 72 0.991367533213218 0.5579033895949799 |
| Hypochromia 2 5 1.6055741360089186 0.458274002951101 |
| Increased blood pressure 69 261 0.8621065685939103 0.8679048228115808 |
| Reduced forced vital capacity 4 14 0.9630522088353414 0.624675255970463 |
| Limbal stem cell deficiency 0 3 0.0 1.0 |
| Transient global amnesia 2 15 0.3700025726781579 0.9606307441557927 |
| Blistering by anatomical location 2 12 0.4812040133779264 0.9075099812904824 |
| Elevated total serum tryptase 1 6 0.4813774657305249 0.8756637428026797 |
| Blepharochalasis 0 4 0.0 1.0 |
| Abnormal circulating t4 level 0 2 0.0 1.0 |
| Epileptic aura 1 7 0.401092165385044 0.9121715035098086 |
| Abnormal blood monovalent inorganic cation concentration 18 59 1.0574081060245706 0.4708911927950181 |
| Abnormal blood sodium concentration 9 32 0.9419901179145592 0.6259959703187616 |
| Abnormal urine osmolality 0 2 0.0 1.0 |
| Status epilepticus without prominent motor symptoms 0 11 0.0 1.0 |
| Abnormal thyroid hormone level 2 8 0.8024526198439242 0.7316356285104274 |
| Low self esteem 1 5 0.6018054162487463 0.8239879431862632 |
| Upper limb hypertonia 1 8 0.3437455222811291 0.9379623427931464 |
| Soft tissue neoplasm 0 5 0.0 1.0 |
| Cyanotic episode 1 3 1.2039451688398528 0.6473218534129999 |
| Erosion of oral mucosa 0 4 0.0 1.0 |
| Neuroinflammation 3 8 1.4450986952157912 0.4315618290558272 |
| Pregnancy exposure 0 4 0.0 1.0 |
| Tissue ischemia 20 73 0.9079712537139084 0.6850578631003071 |
| Abnormal renal pelvis morphology 50 174 0.9703734567224402 0.5992443110369219 |
| Subretinal fluid 1 4 0.8025186671124485 0.7508451551458319 |
| Chorioretinal degeneration 5 17 1.0032362459546926 0.5884307536605788 |
| Abnormal pr interval 1 8 0.3437455222811291 0.9379623427931464 |
| Oral mucosal blisters 1 7 0.401092165385044 0.9121715035098086 |
| Abnormal glomerular basement membrane morphology 1 6 0.4813774657305249 0.8756637428026797 |
| Acute phase response 23 82 0.9381404456217068 0.6427843571939036 |
| Neuralgia 2 13 0.4373973852234721 0.9301401965681808 |
| Abnormal aortic valve cusp morphology 24 81 1.0139026812313805 0.5196417927074369 |
| Subretinal deposits 0 2 0.0 1.0 |
| Respiratory insufficiency due to defective ciliary clearance 1 4 0.8025186671124485 0.7508451551458319 |
| Psychic epileptic aura 0 5 0.0 1.0 |
| Increased theta frequency activity in eeg 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal circulating glutamine concentration 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal circulating proline concentration 3 8 1.4450986952157912 0.4315618290558272 |
| Abnormal circulating arginine concentration 1 5 0.6018054162487463 0.8239879431862632 |
| Recurrent spontaneous abortion 0 2 0.0 1.0 |
| Abnormal qt interval 9 31 0.984944991314418 0.5827692698138716 |
| Abnormal glomerular mesangial cellularity 1 3 1.2039451688398528 0.6473218534129999 |
| Fetal pyelectasis 0 3 0.0 1.0 |
| Noncommunicating hydrocephalus 0 5 0.0 1.0 |
| Skin plaque 5 17 1.0032362459546926 0.5884307536605788 |
| Eeg with centrotemporal epileptiform discharges 0 1 0.0 1.0 |
| Abnormal morphology of the abdominal musculature 9 41 0.6762068387529333 0.8902573628773259 |
| Papule 16 53 1.0414123801220576 0.498050505302492 |
| Ocular pain 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormal cell proliferation 4 15 0.8753803091152489 0.6838446456385155 |
| Pulmonary interstitial thickening 0 2 0.0 1.0 |
| Ankle weakness 1 5 0.6018054162487463 0.8239879431862632 |
| Increased bone mineral density 23 76 1.0452220110957886 0.4732090779696299 |
| Osteopetrosis 3 11 0.9028103044496488 0.6702945765004975 |
| Supernumerary cusp 0 4 0.0 1.0 |
| High myopia 9 29 1.0837412001340931 0.4902657909804968 |
| Corneal erosion 4 16 0.8023203926818384 0.7360995100844776 |
| Intestinal perforation 0 3 0.0 1.0 |
| Chromosomal breakage induced by ionizing radiation 3 13 0.7220475075276012 0.7830437973449951 |
| Abnormality of the fetal cardiovascular system 4 21 0.56595007480904 0.9043043121411438 |
| Pustule 2 10 0.6016722408026756 0.8403529985689939 |
| Epidermoid cyst 2 12 0.4812040133779264 0.9075099812904824 |
| Dilatation of the bladder 0 3 0.0 1.0 |
| Abnormal circulating osteocalcin level 0 2 0.0 1.0 |
| Abnormal circulating long chain fatty acid concentration 4 17 0.7405004633920297 0.7815360505152051 |
| Increased body mass index 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormal nasal mucus secretion 0 2 0.0 1.0 |
| Increased proportion of cd25 mast cells 1 6 0.4813774657305249 0.8756637428026797 |
| Polygenic inheritance 4 12 1.2041499330655958 0.4872403627234796 |
| Verrucae 2 14 0.400891861761427 0.947457693040818 |
| Short term memory impairment 0 5 0.0 1.0 |
| Abnormal proportion of double negative alpha beta regulatory t cell 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal proportion of cd4 positive t cells 5 24 0.6330061846950822 0.8757671481753739 |
| Abnormal lacrimal gland morphology 1 4 0.8025186671124485 0.7508451551458319 |
| Decreased lymphocyte proliferation in response to anti cd3 0 2 0.0 1.0 |
| Decreased lymphocyte proliferation in response to mitogen 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormal muscle fiber type distribution 10 31 1.147040976014819 0.4264187260832318 |
| Medial flaring of the eyebrow 3 24 0.3433064092147397 0.9860488320490748 |
| Absent skin pigmentation 0 1 0.0 1.0 |
| Geographic atrophy 1 3 1.2039451688398528 0.6473218534129999 |
| Recurrent joint dislocation 1 4 0.8025186671124485 0.7508451551458319 |
| Decreased nasal nitric oxide 0 2 0.0 1.0 |
| U shaped upper lip vermilion 2 8 0.8024526198439242 0.7316356285104274 |
| Motor regression 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal factor ix activity 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal heart rate variability 4 13 1.0702067529376766 0.5588754825262198 |
| Hemangioblastoma 6 18 1.204286671131949 0.4410492397467304 |
| Abnormality of masticatory muscle 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormal libido 3 16 0.5551895411380189 0.8908482493424653 |
| Cleft hard palate 1 4 0.8025186671124485 0.7508451551458319 |
| Menometrorrhagia 0 4 0.0 1.0 |
| Lymphangiectasis 1 4 0.8025186671124485 0.7508451551458319 |
| Epidermal nevus 1 8 0.3437455222811291 0.9379623427931464 |
| Increased sulfur amino acid level in urine 4 13 1.0702067529376766 0.5588754825262198 |
| Isomerism 0 1 0.0 1.0 |
| Increased aspartate family amino acid level in urine 1 2 2.4082246740220663 0.5008051893494083 |
| Recurrent ear infections 3 10 1.031926587965397 0.5996338369181741 |
| Genital neoplasm 35 122 0.9682654445519884 0.5976924989621146 |
| Dermatochalasis 0 5 0.0 1.0 |
| Dimple chin 1 9 0.3007355399531929 0.9561814898792792 |
| Agyria 3 14 0.6563155813741294 0.8262352177182655 |
| Abnormality of the premaxilla 0 5 0.0 1.0 |
| Prominence of the premaxilla 0 3 0.0 1.0 |
| Absent toe 21 82 0.8276895233155476 0.80602855492321 |
| Abnormality of the leydig cells 2 6 1.2040133779264215 0.5656089450744413 |
| Broad columella 4 12 1.2041499330655958 0.4872403627234796 |
| Partial anomalous pulmonary venous return 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal eyelid physiology 8 29 0.917017745435976 0.6507823648111599 |
| Acromicria 0 3 0.0 1.0 |
| Erythema 19 68 0.9331946704009556 0.6452749215390455 |
| Gonadal neoplasm 24 83 0.9792589885330532 0.5758116145918578 |
| Urinary tract neoplasm 32 116 0.9163449163449164 0.695137011279704 |
| Epigastric pain 2 5 1.6055741360089186 0.458274002951101 |
| Abnormality of fundus pigmentation 3 18 0.4810304449648712 0.933024105996546 |
| Tall chin 2 8 0.8024526198439242 0.7316356285104274 |
| Hemifacial spasm 3 13 0.7220475075276012 0.7830437973449951 |
| Oral pharyngeal dysphagia 12 61 0.5880016436104644 0.9686305460580584 |
| Biventricular hypertrophy 2 5 1.6055741360089186 0.458274002951101 |
| Mitochondrial respiratory chain defects 5 16 1.0945917156161549 0.5270800523063662 |
| Abnormal renal echogenicity 2 15 0.3700025726781579 0.9606307441557927 |
| Receptive language delay 15 49 1.0625580430358237 0.4762261914662168 |
| Chronic hepatitis due to cryptosporidium infection 0 3 0.0 1.0 |
| Csf lymphocytic pleiocytosis 3 12 0.8023865283818445 0.7313126477609548 |
| Chronic hepatitis 0 4 0.0 1.0 |
| Tendon xanthomatosis 1 5 0.6018054162487463 0.8239879431862632 |
| Metabolic alkalosis 1 4 0.8025186671124485 0.7508451551458319 |
| Absent shortened dynein arms 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of the umbilical cord 7 26 0.8868024332187252 0.6781129016609558 |
| Abnormal circulating ceruloplasmin concentration 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal pharynx morphology 33 112 1.0058350195284929 0.5248411765779684 |
| Recurrent upper and lower respiratory tract infections 2 5 1.6055741360089186 0.458274002951101 |
| Atonic seizure 21 70 1.032120017310189 0.4971523460030446 |
| Agenesis of lateral incisor 2 15 0.3700025726781579 0.9606307441557927 |
| Abnormal right ventricular function 0 15 0.0 1.0 |
| Decreased circulating parathyroid hormone level 0 1 0.0 1.0 |
| Impaired tactile sensation 7 22 1.1239084310441094 0.4786794787334251 |
| Increased urine proteinogenic amino acid derivative level 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal oral physiology 50 165 1.0476457896136908 0.4217785801196285 |
| Abnormal basophil count 0 5 0.0 1.0 |
| Spontaneous pain sensation 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormal shoulder physiology 2 8 0.8024526198439242 0.7316356285104274 |
| Compensatory head posture 0 3 0.0 1.0 |
| Abnormal stool composition 2 5 1.6055741360089186 0.458274002951101 |
| Systolic heart murmur 0 8 0.0 1.0 |
| Abnormal heart sound 4 29 0.3844176706827309 0.9855556537572402 |
| Eeg with spike wave complexes 2 5 3 5 hz 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal pulmonary valve physiology 33 113 0.9931226765799256 0.5489973368931306 |
| Agenesis of maxillary incisor 2 11 0.5347454477889261 0.8781437590361336 |
| Opportunistic infection 2 6 1.2040133779264215 0.5656089450744413 |
| B lymphocytopenia 7 23 1.0535175879396983 0.5326719776995769 |
| Impaired glucose tolerance 4 16 0.8023203926818384 0.7360995100844776 |
| Abnormal size of the clitoris 17 61 0.9298701298701298 0.647285740891159 |
| Dermoid cyst 1 5 0.6018054162487463 0.8239879431862632 |
| Cutaneous cyst 3 17 0.515461453902404 0.9142722919386124 |
| Confusional arousal 0 1 0.0 1.0 |
| Left to right shunt 1 7 0.401092165385044 0.9121715035098086 |
| Rhinitis 6 34 0.5149746435747775 0.9604315162740188 |
| Bronchitis 5 31 0.4621307718060312 0.9716970654300356 |
| Fibrosarcoma 2 5 1.6055741360089186 0.458274002951101 |
| Senile plaques 2 10 0.6016722408026756 0.8403529985689939 |
| Somnambulism 0 1 0.0 1.0 |
| Preaxial polydactyly 12 66 0.5331841909023117 0.9868234589488196 |
| Parasomnia 1 2 2.4082246740220663 0.5008051893494083 |
| Aortic atherosclerotic lesion 1 5 0.6018054162487463 0.8239879431862632 |
| Postaxial polydactyly 17 111 0.4322188449848024 0.9998252225040076 |
| Abnormal aldolase level 2 19 0.2827857564430454 0.9879599699433071 |
| Anal fissure 0 3 0.0 1.0 |
| Bilateral tonic clonic seizure with generalized onset 10 32 1.094750320102433 0.4723010351743333 |
| Hemianopia 7 31 0.7015633724176438 0.8481020736427258 |
| Snoring 1 3 1.2039451688398528 0.6473218534129999 |
| Myeloid leukemia 3 14 0.6563155813741294 0.8262352177182655 |
| Pyelonephritis 2 13 0.4373973852234721 0.9301401965681808 |
| Malar rash 1 7 0.401092165385044 0.9121715035098086 |
| Extrahepatic cholestasis 3 11 0.9028103044496488 0.6702945765004975 |
| Abnormality of folate metabolism 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal energy expenditure 0 3 0.0 1.0 |
| Flat face 24 78 1.0706798442647498 0.4329101758773457 |
| Enlarged thorax 16 52 1.070489844683393 0.4624567654022551 |
| Cervical lymphadenopathy 0 1 0.0 1.0 |
| Germinoma 2 11 0.5347454477889261 0.8781437590361336 |
| Leiomyosarcoma 7 24 0.99140802049463 0.5842864352535018 |
| Stuttering 3 13 0.7220475075276012 0.7830437973449951 |
| Basilar invagination 1 2 2.4082246740220663 0.5008051893494083 |
| Leydig cell neoplasia 1 2 2.4082246740220663 0.5008051893494083 |
| Dysgerminoma 1 8 0.3437455222811291 0.9379623427931464 |
| Odontogenic neoplasm 1 5 0.6018054162487463 0.8239879431862632 |
| Mesoaxial polydactyly 2 12 0.4812040133779264 0.9075099812904824 |
| Honeycomb lung 3 9 1.2040816326530612 0.5196282464541333 |
| Lip pit 0 8 0.0 1.0 |
| Eclampsia 1 3 1.2039451688398528 0.6473218534129999 |
| Restless legs 3 12 0.8023865283818445 0.7313126477609548 |
| Elevated transferrin saturation 0 1 0.0 1.0 |
| Sound sensitivity 8 26 1.0703008638665474 0.5102183235563419 |
| Capillary malformation 13 45 0.9780547163477676 0.5829215706476896 |
| Synostosis of carpals tarsals 7 31 0.7015633724176438 0.8481020736427258 |
| Dysgenesis of the hippocampus 1 8 0.3437455222811291 0.9379623427931464 |
| Pulmonary edema 3 10 1.031926587965397 0.5996338369181741 |
| Decreased circulating level of specific antibody 6 20 1.031958664242656 0.5583681068930001 |
| Decreased specific pneumococcal antibody level 1 4 0.8025186671124485 0.7508451551458319 |
| Eyelid myoclonus 10 31 1.147040976014819 0.4264187260832318 |
| Abnormal cerebral vein morphology 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormal dense granules 1 6 0.4813774657305249 0.8756637428026797 |
| Eclabion 32 113 0.950684017350684 0.6301034385041839 |
| Neoplasm of the respiratory system 12 56 0.6552776082977425 0.9305010317474603 |
| Hypergranulosis 1 6 0.4813774657305249 0.8756637428026797 |
| Dysmenorrhea 2 10 0.6016722408026756 0.8403529985689939 |
| Medullary nephrocalcinosis 1 4 0.8025186671124485 0.7508451551458319 |
| Left ventricular systolic dysfunction 6 22 0.9027126590756864 0.6626445438959574 |
| Premature pubarche 1 6 0.4813774657305249 0.8756637428026797 |
| Hypoautofluorescent retinal lesion 0 3 0.0 1.0 |
| Abnormal blood gas level 3 17 0.515461453902404 0.9142722919386124 |
| Meconium stained amniotic fluid 1 3 1.2039451688398528 0.6473218534129999 |
| Optic disc drusen 0 4 0.0 1.0 |
| Prominent calcaneus 0 6 0.0 1.0 |
| Hyperautofluorescent retinal lesion 1 9 0.3007355399531929 0.9561814898792792 |
| Chills 3 12 0.8023865283818445 0.7313126477609548 |
| Distal symphalangism 0 1 0.0 1.0 |
| Abnormal circulating estrogen level 10 35 0.9629778672032192 0.6033438962742741 |
| Multiple glomerular cysts 1 7 0.401092165385044 0.9121715035098086 |
| Delayed social development 3 11 0.9028103044496488 0.6702945765004975 |
| Synostosis of metacarpals metatarsals 3 10 1.031926587965397 0.5996338369181741 |
| Fibrous tissue neoplasm 16 56 0.9629032258064516 0.6007858199002952 |
| Descending aortic dissection 1 12 0.2186255736907692 0.9845631783003476 |
| Monocytosis 2 7 0.963076923076923 0.6566171786481523 |
| Ovarian carcinoma 3 14 0.6563155813741294 0.8262352177182655 |
| Neoplasm of the tongue 6 31 0.5770127260549229 0.9276030862003526 |
| Onychomycosis 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormal sperm motility 3 29 0.277092930488715 0.9965295982974371 |
| Reduced sperm motility 2 13 0.4373973852234721 0.9301401965681808 |
| Immotile sperm 1 2 2.4082246740220663 0.5008051893494083 |
| Juvenile myelomonocytic leukemia 3 8 1.4450986952157912 0.4315618290558272 |
| Insulinoma 0 5 0.0 1.0 |
| Thyroiditis 7 28 0.8021217197096594 0.7573372587936686 |
| Abnormality of the pubic hair 6 23 0.8494937157716402 0.7085172143039323 |
| Visual fixation instability 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormal glomerular filtration rate 2 11 0.5347454477889261 0.8781437590361336 |
| Erythema nodosum 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal visual fixation 6 18 1.204286671131949 0.4410492397467304 |
| Urethral stricture 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormal larynx morphology 25 105 0.7503370407819346 0.915325319004444 |
| Stooped posture 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal bronchus morphology 20 92 0.6665918947211007 0.9609447635830451 |
| B cell lymphoma 4 16 0.8023203926818384 0.7360995100844776 |
| Overfriendliness 6 20 1.031958664242656 0.5583681068930001 |
| Arteriovenous malformation 5 42 0.324242890362743 0.9980393896074776 |
| Recurrent pancreatitis 3 9 1.2040816326530612 0.5196282464541333 |
| Stereotypical hand wringing 4 13 1.0702067529376766 0.5588754825262198 |
| Stereotypical body rocking 1 3 1.2039451688398528 0.6473218534129999 |
| Glioblastoma multiforme 7 22 1.1239084310441094 0.4786794787334251 |
| Abnormal bronchus physiology 3 13 0.7220475075276012 0.7830437973449951 |
| Neoplasm of the oral cavity 10 40 0.8019226469930695 0.7788895119119675 |
| Pharyngitis 3 10 1.031926587965397 0.5996338369181741 |
| Abnormal natural killer cell physiology 1 7 0.401092165385044 0.9121715035098086 |
| Entrapment neuropathy 0 7 0.0 1.0 |
| Abnormal cry 10 31 1.147040976014819 0.4264187260832318 |
| Bronchospasm 3 11 0.9028103044496488 0.6702945765004975 |
| Motor tics 1 3 1.2039451688398528 0.6473218534129999 |
| Testicular adrenal rest tumor 1 2 2.4082246740220663 0.5008051893494083 |
| Csf pleocytosis 3 13 0.7220475075276012 0.7830437973449951 |
| Rhegmatogenous retinal detachment 1 6 0.4813774657305249 0.8756637428026797 |
| Exudative retinal detachment 0 2 0.0 1.0 |
| Neuroendocrine neoplasm 8 30 0.8752132585912746 0.6920206151109443 |
| Abnormal respiratory motile cilium physiology 1 12 0.2186255736907692 0.9845631783003476 |
| Immotile cilia 0 3 0.0 1.0 |
| Esophagitis 7 24 0.99140802049463 0.5842864352535018 |
| Lupus anticoagulant 0 4 0.0 1.0 |
| Red eye 18 63 0.9628782784129118 0.6010069720271283 |
| Absent inner and outer dynein arms 0 2 0.0 1.0 |
| Digital flexor tenosynovitis 0 1 0.0 1.0 |
| Abnormal hypothalamus physiology 5 26 0.5725604604077988 0.9166742426731276 |
| Abnormal hypothalamus morphology 4 16 0.8023203926818384 0.7360995100844776 |
| Type ii transferrin isoform profile 1 10 0.2672833314759092 0.969051322224564 |
| Herpes simplex encephalitis 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal aortic arch morphology 11 40 0.9129660262119864 0.6591261466574873 |
| Abnormal arterial physiology 27 91 1.0159148397976392 0.5125160752793727 |
| Synostosis of joints 33 125 0.8621302731533861 0.794468474753872 |
| Erectile dysfunction 7 35 0.6010050251256281 0.9243121618016044 |
| Fragmented epiphyses 1 2 2.4082246740220663 0.5008051893494083 |
| Absent inner dynein arms 0 2 0.0 1.0 |
| Shortened qt interval 1 8 0.3437455222811291 0.9379623427931464 |
| Intramuscular hematoma 0 1 0.0 1.0 |
| Staring gaze 2 12 0.4812040133779264 0.9075099812904824 |
| Abnormal sex determination 2 13 0.4373973852234721 0.9301401965681808 |
| Sex reversal 0 7 0.0 1.0 |
| Oculomotor nerve palsy 4 20 0.6014056224899599 0.8812712129159418 |
| Pulmonary interstitial high resolution computed tomography abnormality 4 13 1.0702067529376766 0.5588754825262198 |
| Prolonged pr interval 0 4 0.0 1.0 |
| Abnormality of the axillary hair 6 22 0.9027126590756864 0.6626445438959574 |
| Uveal ectropion 0 1 0.0 1.0 |
| Abnormal st segment 1 17 0.1502006018054162 0.9972895783561956 |
| St segment depression 0 6 0.0 1.0 |
| St segment elevation 1 11 0.2405215646940822 0.9781420785502122 |
| Neoplasm of the adrenal cortex 5 17 1.0032362459546926 0.5884307536605788 |
| Absent outer dynein arms 1 5 0.6018054162487463 0.8239879431862632 |
| Cutaneous amyloidosis 1 3 1.2039451688398528 0.6473218534129999 |
| Head banging 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormality of the brainstem white matter 3 14 0.6563155813741294 0.8262352177182655 |
| Bloody diarrhea 3 26 0.313366401442972 0.9919433614038574 |
| Macule 58 205 0.9490097334093828 0.6565250735607643 |
| Upper limb asymmetry 2 7 0.963076923076923 0.6566171786481523 |
| Esodeviation 33 114 0.9807242186424344 0.5728071217413119 |
| Lower limb asymmetry 6 35 0.4971476083793334 0.96790448615865 |
| Euryblepharon 1 9 0.3007355399531929 0.9561814898792792 |
| Hemiatrophy 2 5 1.6055741360089186 0.458274002951101 |
| Anorectal anomaly 69 240 0.9708782733432968 0.6055397539430578 |
| Asymmetric growth 9 48 0.5542948503055778 0.9668779481853766 |
| Exstrophy 0 2 0.0 1.0 |
| Arterial stenosis 12 63 0.5647848401105409 0.9776470765395462 |
| Neoplasm of the heart 1 8 0.3437455222811291 0.9379623427931464 |
| Handgrip myotonia 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormality of the uterine cervix 0 5 0.0 1.0 |
| Femoral hernia 1 15 0.1717055929693843 0.9945637612889204 |
| Neoplasm of the tracheobronchial system 2 13 0.4373973852234721 0.9301401965681808 |
| Palpebral edema 5 32 0.4449528202457563 0.9774631579137176 |
| Ectopic anterior pituitary gland 0 2 0.0 1.0 |
| Thoracic aortic aneurysm 33 118 0.9340476711130548 0.6631334503359699 |
| Abnormal subarachnoid space morphology 27 102 0.8655784148397977 0.7713360996001475 |
| Widened subarachnoid space 24 81 1.0139026812313805 0.5196417927074369 |
| Bilateral cleft palate 2 12 0.4812040133779264 0.9075099812904824 |
| Non midline cleft palate 2 14 0.400891861761427 0.947457693040818 |
| Hypopigmented macule 3 19 0.4509033121445299 0.9479246404767652 |
| Abnormal hemoglobin concentration 1 3 1.2039451688398528 0.6473218534129999 |
| Spinal cord lesion 5 28 0.5226270359965648 0.9452023323208796 |
| Severe hearing impairment 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal erythrocyte physiology 1 7 0.401092165385044 0.9121715035098086 |
| Venous malformation 1 9 0.3007355399531929 0.9561814898792792 |
| Exodeviation 20 76 0.8589694289559701 0.7578832618233443 |
| Upper eyelid edema 0 4 0.0 1.0 |
| Abnormally ossified vertebrae 3 17 0.515461453902404 0.9142722919386124 |
| Cutaneous syndactyly 9 47 0.5689609541789439 0.9602695077490015 |
| Carcinoid tumor 1 12 0.2186255736907692 0.9845631783003476 |
| Ketotic hypoglycemia 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal labia majora morphology 11 35 1.1039360393603936 0.4559545615058867 |
| Abnormality of the supraorbital ridges 20 76 0.8589694289559701 0.7578832618233443 |
| Small intestinal dysmotility 1 3 1.2039451688398528 0.6473218534129999 |
| Retinal vascular tortuosity 14 46 1.053643384822028 0.4908860254433825 |
| Noncompaction cardiomyopathy 3 9 1.2040816326530612 0.5196282464541333 |
| Orthopnea 2 11 0.5347454477889261 0.8781437590361336 |
| Hypoplastic female external genitalia 14 45 1.0877835308390562 0.4526576527179283 |
| Widened cerebellar subarachnoid space 0 6 0.0 1.0 |
| Deviation of toes 37 133 0.927086858432036 0.6824432845077282 |
| Widened cerebral subarachnoid space 3 9 1.2040816326530612 0.5196282464541333 |
| Iris transillumination defect 0 1 0.0 1.0 |
| Abnormal arm span 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormal ciliary body morphology 1 8 0.3437455222811291 0.9379623427931464 |
| Neoplasm of the ear 4 12 1.2041499330655958 0.4872403627234796 |
| Kinked brainstem 0 6 0.0 1.0 |
| Increased cup to disc ratio 0 2 0.0 1.0 |
| Vitamin b12 deficiency 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal mast cell morphology 1 7 0.401092165385044 0.9121715035098086 |
| Anuria 0 4 0.0 1.0 |
| Abnormal germ cell morphology 0 7 0.0 1.0 |
| Profound global developmental delay 11 40 0.9129660262119864 0.6591261466574873 |
| Episcleritis 0 2 0.0 1.0 |
| Papilloma 9 34 0.8663895407308079 0.7046903868020313 |
| Abnormal labia minora morphology 7 25 0.9361995160990136 0.6329105152499283 |
| Unilateral cryptorchidism 0 5 0.0 1.0 |
| Abdominal obesity 4 16 0.8023203926818384 0.7360995100844776 |
| Abnormal male reproductive system physiology 33 159 0.6264825632855373 0.9947621797221616 |
| Inflammatory abnormality of the eye 35 125 0.9355953857137488 0.6627300987369884 |
| Abnormal calcium phosphate regulating hormone level 9 29 1.0837412001340931 0.4902657909804968 |
| Abnormal blood phosphate concentration 8 29 0.917017745435976 0.6507823648111599 |
| Liver abscess 1 4 0.8025186671124485 0.7508451551458319 |
| Neoplasm of the thymus 0 7 0.0 1.0 |
| Acephalic spermatozoa 0 2 0.0 1.0 |
| Abnormal sperm tail morphology 0 2 0.0 1.0 |
| Abnormal sperm head morphology 0 4 0.0 1.0 |
| Cardiac diverticulum 4 13 1.0702067529376766 0.5588754825262198 |
| Abnormality of the pituitary gland 56 196 0.9623978201634876 0.6216117379979222 |
| Unusual fungal infection 9 33 0.9026148172980222 0.6667162820541698 |
| Abnormal thalamic mri signal intensity 5 18 0.9259354639334552 0.6451159513320872 |
| Rectal fistula 5 20 0.8022542126994755 0.7426880917621369 |
| Incomitant strabismus 15 50 1.032055280963578 0.5128316895445246 |
| Chronic pain 0 2 0.0 1.0 |
| Decreased mean corpuscular volume 2 8 0.8024526198439242 0.7316356285104274 |
| Crohn s disease 0 3 0.0 1.0 |
| Food intolerance 2 7 0.963076923076923 0.6566171786481523 |
| Abnormal qrs complex 2 6 1.2040133779264215 0.5656089450744413 |
| Non hodgkin lymphoma 8 29 0.917017745435976 0.6507823648111599 |
| Cephalohematoma 0 4 0.0 1.0 |
| Urogenital fistula 8 37 0.6633077563095128 0.8905965477656415 |
| Abnormal brain n acetyl aspartate level by mrs 3 8 1.4450986952157912 0.4315618290558272 |
| Abnormal preputium morphology 7 33 0.6474165700296354 0.8917573751262782 |
| Telangiectasia of the skin 16 55 0.9877309070857458 0.567446454031113 |
| Emg myotonic discharges 0 3 0.0 1.0 |
| Abnormality of olfactory lobe morphology 0 5 0.0 1.0 |
| Emg impaired neuromuscular transmission 5 19 0.8596776507723947 0.6966080955472779 |
| Ulcerative colitis 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormal circle of willis morphology 0 1 0.0 1.0 |
| Abnormal size of pituitary gland 3 19 0.4509033121445299 0.9479246404767652 |
| Absent nares 1 7 0.401092165385044 0.9121715035098086 |
| Small pituitary gland 0 5 0.0 1.0 |
| Metamorphopsia 1 9 0.3007355399531929 0.9561814898792792 |
| Extra axial cerebrospinal fluid accumulation 2 6 1.2040133779264215 0.5656089450744413 |
| Calcification of cartilage 1 4 0.8025186671124485 0.7508451551458319 |
| Dilation of virchow robin spaces 2 5 1.6055741360089186 0.458274002951101 |
| Folliculitis 0 5 0.0 1.0 |
| Diffuse optic disc pallor 1 8 0.3437455222811291 0.9379623427931464 |
| Peritoneal abscess 3 11 0.9028103044496488 0.6702945765004975 |
| Upper limb pain 1 6 0.4813774657305249 0.8756637428026797 |
| Lower limb pain 5 18 0.9259354639334552 0.6451159513320872 |
| Hip flexor weakness 1 4 0.8025186671124485 0.7508451551458319 |
| Periauricular skin pits 10 39 0.8296907884086125 0.7489486706149994 |
| Skin pit 12 50 0.7593783115506888 0.8383336807104429 |
| Macroscopic hematuria 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal urinary electrolyte concentration 18 64 0.9418145668255314 0.6314200034133484 |
| Albuminuria 5 16 1.0945917156161549 0.5270800523063662 |
| Lewy bodies 6 19 1.1114946674223298 0.500937947493563 |
| Abnormal z disc morphology 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal dentate nucleus morphology 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormal sarcomere morphology 1 5 0.6018054162487463 0.8239879431862632 |
| Juvenile aseptic necrosis 5 29 0.50078116281665 0.9558569099906208 |
| Abnormal brain positron emission tomography 4 21 0.56595007480904 0.9043043121411438 |
| Reflex seizure 0 10 0.0 1.0 |
| Unilateral cleft lip 0 6 0.0 1.0 |
| Distal joint laxity 2 7 0.963076923076923 0.6566171786481523 |
| Iron accumulation in globus pallidus 1 3 1.2039451688398528 0.6473218534129999 |
| Unilateral cleft palate 0 8 0.0 1.0 |
| Non midline cleft lip 6 32 0.5547426451646144 0.940560165972986 |
| Bilateral cleft lip 3 14 0.6563155813741294 0.8262352177182655 |
| Abnormal thalamic size 3 8 1.4450986952157912 0.4315618290558272 |
| Abnormal haptoglobin level 0 2 0.0 1.0 |
| Abnormal intraocular pressure 4 19 0.6415885765283356 0.8535545886886166 |
| Chronic kidney disease 32 108 1.0139402560455193 0.510560894469616 |
| Subdural hemorrhage 1 5 0.6018054162487463 0.8239879431862632 |
| Emg slow motor conduction 2 5 1.6055741360089186 0.458274002951101 |
| Increased endomysial connective tissue 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormal urine potassium concentration 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal urine phosphate concentration 3 18 0.4810304449648712 0.933024105996546 |
| Abnormal erythrocyte sedimentation rate 7 26 0.8868024332187252 0.6781129016609558 |
| Clonic seizure 7 21 1.204355108877722 0.4231077406436607 |
| Mucosal telangiectasiae 9 28 1.1409390052402208 0.4419850781713734 |
| Abnormal urine sodium concentration 1 4 0.8025186671124485 0.7508451551458319 |
| Muscle fiber tubular inclusions 3 8 1.4450986952157912 0.4315618290558272 |
| Hypernatriuria 1 2 2.4082246740220663 0.5008051893494083 |
| Renal sodium wasting 0 2 0.0 1.0 |
| Abnormal urine magnesium concentration 1 4 0.8025186671124485 0.7508451551458319 |
| Hypermagnesiuria 0 2 0.0 1.0 |
| Cerebral cortical hemiatrophy 0 6 0.0 1.0 |
| Amaurosis fugax 8 25 1.1334174420438416 0.4592530866816477 |
| Hypoplastic dermoepidermal hemidesmosomes 1 5 0.6018054162487463 0.8239879431862632 |
| Conspicuously happy disposition 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal csf protein level 12 39 1.0703952274422073 0.4824923970858958 |
| Cellulitis 4 19 0.6415885765283356 0.8535545886886166 |
| Abnormal central sensory function 2 14 0.400891861761427 0.947457693040818 |
| Vascular neoplasm 34 116 0.9983179142136248 0.5386170243631121 |
| Abnormal morphology of the olfactory bulb 3 13 0.7220475075276012 0.7830437973449951 |
| Abnormal periosteum morphology 0 2 0.0 1.0 |
| Adrenocorticotropin deficient adrenal insufficiency 2 5 1.6055741360089186 0.458274002951101 |
| Primary hyperaldosteronism 0 1 0.0 1.0 |
| Congenital malformation of the right heart 7 44 0.4542441939426864 0.9875188849645375 |
| Glucocortocoid insensitive primary hyperaldosteronism 0 1 0.0 1.0 |
| Adrenocorticotropic hormone deficiency 2 5 1.6055741360089186 0.458274002951101 |
| Adrenocorticotropic hormone excess 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormality of the posterior pituitary 7 32 0.6734070351758794 0.8714557404830116 |
| Posterior pituitary dysgenesis 3 14 0.6563155813741294 0.8262352177182655 |
| Pituitary growth hormone cell adenoma 4 15 0.8753803091152489 0.6838446456385155 |
| Abnormality of the parathyroid morphology 4 17 0.7405004633920297 0.7815360505152051 |
| Abnormal substantia nigra morphology 2 18 0.3005016722408026 0.9837457247494442 |
| Parathyroid dysgenesis 0 3 0.0 1.0 |
| Abnormality of the pulmonary veins 6 35 0.4971476083793334 0.96790448615865 |
| Hypoplasia of the olfactory bulb 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal circulating gonadotropin concentration 12 48 0.8017897091722596 0.792170947596045 |
| Blind vagina 0 2 0.0 1.0 |
| Esophageal neoplasm 6 20 1.031958664242656 0.5583681068930001 |
| Retinal thinning 2 11 0.5347454477889261 0.8781437590361336 |
| Atelectasis 11 38 0.98086647533142 0.5825045433654102 |
| Abnormal electrophysiology of sinoatrial node origin 11 38 0.98086647533142 0.5825045433654102 |
| Left bundle branch block 1 3 1.2039451688398528 0.6473218534129999 |
| Chest pain 15 65 0.7209271078266711 0.896659402773822 |
| First degree atrioventricular block 1 18 0.1413456054437823 0.9980862756412444 |
| Increased intervertebral space 0 3 0.0 1.0 |
| Weakness of facial musculature 52 175 1.0182290802499865 0.4857669451820635 |
| Left anterior fascicular block 0 1 0.0 1.0 |
| Abnormality of the humeroradial joint 8 37 0.6633077563095128 0.8905965477656415 |
| Dark urine 2 6 1.2040133779264215 0.5656089450744413 |
| Sick sinus syndrome 0 11 0.0 1.0 |
| Abnormal morphology of the radius 12 50 0.7593783115506888 0.8383336807104429 |
| Central hypothyroidism 9 40 0.6981172882895548 0.8718012139583292 |
| Upper extremity joint dislocation 17 68 0.8014565826330532 0.821331902288539 |
| Basal encephalocele 0 6 0.0 1.0 |
| Abnormal dlco 2 7 0.963076923076923 0.6566171786481523 |
| Highly elevated creatine kinase 0 4 0.0 1.0 |
| Hypercoagulability 1 8 0.3437455222811291 0.9379623427931464 |
| Visual agnosia 1 8 0.3437455222811291 0.9379623427931464 |
| Collectionism 2 8 0.8024526198439242 0.7316356285104274 |
| Portal vein thrombosis 2 8 0.8024526198439242 0.7316356285104274 |
| Broad chin 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormal oral mucosa morphology 55 191 0.9732319894249836 0.594175208254934 |
| Overhanging nasal tip 1 7 0.401092165385044 0.9121715035098086 |
| Moyamoya phenomenon 3 10 1.031926587965397 0.5996338369181741 |
| Slow pupillary light response 3 8 1.4450986952157912 0.4315618290558272 |
| Response to drugs acting on neuromuscular transmission 3 8 1.4450986952157912 0.4315618290558272 |
| Fatigable weakness of distal limb muscles 1 6 0.4813774657305249 0.8756637428026797 |
| Chin with horizontal crease 0 3 0.0 1.0 |
| Lichenification 1 2 2.4082246740220663 0.5008051893494083 |
| Decreased serum complement c4 0 4 0.0 1.0 |
| Germ cell neoplasia 9 37 0.7732388295579714 0.8010744596285829 |
| Lower limb metaphyseal irregularity 3 8 1.4450986952157912 0.4315618290558272 |
| Hypolipidemia 2 5 1.6055741360089186 0.458274002951101 |
| Embryonal renal neoplasm 11 37 1.018734033494181 0.5415287757310885 |
| Congenital malformation of the left heart 4 26 0.4370208105147864 0.9697599170039232 |
| Flattened femoral epiphysis 2 8 0.8024526198439242 0.7316356285104274 |
| Abnormality of the thoracic cavity 11 38 0.98086647533142 0.5825045433654102 |
| Hamartoma of tongue 3 15 0.6015389762462362 0.8618328607283439 |
| Bifid nose 0 5 0.0 1.0 |
| Neoplasm of the parathyroid gland 4 14 0.9630522088353414 0.624675255970463 |
| Hyperplastic callus formation 0 1 0.0 1.0 |
| Large intestinal polyposis 8 25 1.1334174420438416 0.4592530866816477 |
| Pancreatic fibrosis 1 16 0.1602362643486013 0.9961613672451204 |
| Defective t cell proliferation 1 4 0.8025186671124485 0.7508451551458319 |
| Large face 59 242 0.7717698918841374 0.9649534064266864 |
| Splanchnic vein thrombosis 2 11 0.5347454477889261 0.8781437590361336 |
| Decreased circulating gonadotropin concentration 3 15 0.6015389762462362 0.8618328607283439 |
| Abnormal iliac wing morphology 10 42 0.7515928906773978 0.8308770083779342 |
| Decreased circulating follicle stimulating hormone concentration 2 14 0.400891861761427 0.947457693040818 |
| Oligoarthritis 1 3 1.2039451688398528 0.6473218534129999 |
| Reduced amplitude of dark adapted bright flash electroretinogram a wave 0 2 0.0 1.0 |
| Abnormal dark adapted electroretinogram 0 2 0.0 1.0 |
| Abnormal full field electroretinogram 7 24 0.99140802049463 0.5842864352535018 |
| Central opacification of the cornea 0 9 0.0 1.0 |
| Abnormal corneal epithelium morphology 16 59 0.8953488372093024 0.6931974486096993 |
| Broad jaw 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormality of corneal stroma 12 59 0.613194345280594 0.9564798413866474 |
| Corneal neovascularization 5 17 1.0032362459546926 0.5884307536605788 |
| Mydriasis 1 11 0.2405215646940822 0.9781420785502122 |
| Neoplasm of the pituitary gland 13 49 0.8688970944761478 0.7176802734896238 |
| Bull s eye maculopathy 1 3 1.2039451688398528 0.6473218534129999 |
| Decreased serum iron 1 4 0.8025186671124485 0.7508451551458319 |
| Choriocarcinoma 2 9 0.6877209746774964 0.7922091662556401 |
| Pulmonary carcinoid tumor 1 9 0.3007355399531929 0.9561814898792792 |
| Adenocarcinoma of the small intestine 1 8 0.3437455222811291 0.9379623427931464 |
| Choroidal neovascularization 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormality of foveal pigmentation 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal descemet membrane morphology 0 4 0.0 1.0 |
| Abnormal sacroiliac joint morphology 1 4 0.8025186671124485 0.7508451551458319 |
| Yellow white lesions of the retina 1 17 0.1502006018054162 0.9972895783561956 |
| Conjunctival hamartoma 2 9 0.6877209746774964 0.7922091662556401 |
| Anterior synechiae of the anterior chamber 0 5 0.0 1.0 |
| Urogenital sinus anomaly 3 11 0.9028103044496488 0.6702945765004975 |
| Exostoses 4 14 0.9630522088353414 0.624675255970463 |
| Reduced number of corneal endothelial cells 0 1 0.0 1.0 |
| Retinoschisis 0 2 0.0 1.0 |
| Recurrent pharyngitis 2 7 0.963076923076923 0.6566171786481523 |
| Abnormality of corneal thickness 15 62 0.7672653463789764 0.8497391810726838 |
| Increased corneal thickness 0 2 0.0 1.0 |
| Yellow white lesions of the macula 0 3 0.0 1.0 |
| Abnormal corneal endothelium morphology 0 6 0.0 1.0 |
| Macular thickening 6 18 1.204286671131949 0.4410492397467304 |
| Posterior synechiae of the anterior chamber 0 2 0.0 1.0 |
| Macular hyperpigmentation 1 3 1.2039451688398528 0.6473218534129999 |
| Pilomatrixoma 2 6 1.2040133779264215 0.5656089450744413 |
| Drusen 1 10 0.2672833314759092 0.969051322224564 |
| Abnormal branching pattern of the aortic arch 3 15 0.6015389762462362 0.8618328607283439 |
| Clubbing of fingers 4 19 0.6415885765283356 0.8535545886886166 |
| Decreased serum insulin like growth factor 1 1 7 0.401092165385044 0.9121715035098086 |
| Double aortic arch 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal serum insulin like growth factor 1 level 2 11 0.5347454477889261 0.8781437590361336 |
| Congenital malformation of the great arteries 98 343 0.9618521078092606 0.6456429793429317 |
| Male sexual dysfunction 8 45 0.5193101949134121 0.9743257765686444 |
| Interrupted aortic arch 3 15 0.6015389762462362 0.8618328607283439 |
| Muscular ventricular septal defect 3 8 1.4450986952157912 0.4315618290558272 |
| Decreased circulating androgen concentration 8 39 0.6203407420219667 0.922053398538728 |
| Abnormal coronary sinus morphology 0 5 0.0 1.0 |
| Increased circulating androgen concentration 2 8 0.8024526198439242 0.7316356285104274 |
| Abnormal circulating androgen level 11 50 0.6779260100293311 0.906146824576433 |
| Abnormal circulating follicle stimulating hormone concentration 5 35 0.4002901461890414 0.9888468984293666 |
| Erythematous papule 1 5 0.6018054162487463 0.8239879431862632 |
| Clubbing of toes 3 26 0.313366401442972 0.9919433614038574 |
| Common atrium 0 6 0.0 1.0 |
| Abnormal atrioventricular connection 0 4 0.0 1.0 |
| Hyperpigmentation of the fundus 0 4 0.0 1.0 |
| Abnormal lymphatic vessel morphology 1 9 0.3007355399531929 0.9561814898792792 |
| Osteochondroma 1 6 0.4813774657305249 0.8756637428026797 |
| Neuroma 0 5 0.0 1.0 |
| Lymphangioma 2 5 1.6055741360089186 0.458274002951101 |
| Pancreatic endocrine tumor 0 8 0.0 1.0 |
| Achromatopsia 1 2 2.4082246740220663 0.5008051893494083 |
| Glucagonoma 0 5 0.0 1.0 |
| Visceral angiomatosis 2 12 0.4812040133779264 0.9075099812904824 |
| Abnormality of lens shape 1 7 0.401092165385044 0.9121715035098086 |
| Abnormal platelet aggregation 3 17 0.515461453902404 0.9142722919386124 |
| Spoken word recognition deficit 3 8 1.4450986952157912 0.4315618290558272 |
| Abnormal proportion of class switched memory b cells 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormal atrial arrangement 1 17 0.1502006018054162 0.9972895783561956 |
| Abnormal connection of the cardiac segments 50 187 0.8766815364690588 0.8074666262375348 |
| Left ventricular noncompaction cardiomyopathy 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal platelet function 5 35 0.4002901461890414 0.9888468984293666 |
| Impaired ristocetin induced platelet aggregation 0 3 0.0 1.0 |
| Abnormal platelet morphology 5 17 1.0032362459546926 0.5884307536605788 |
| Intracranial meningioma 2 11 0.5347454477889261 0.8781437590361336 |
| Neoplasm of the eye 13 45 0.9780547163477676 0.5829215706476896 |
| Multiple joint dislocation 2 6 1.2040133779264215 0.5656089450744413 |
| Bilateral polymicrogyria 9 30 1.0319908050380728 0.537377176470804 |
| Abnormal circulating creatinine concentration 6 22 0.9027126590756864 0.6626445438959574 |
| Neoplasm of the breast 24 80 1.0321524836349634 0.4909214759782831 |
| Abnormality of endocrine pancreas physiology 5 20 0.8022542126994755 0.7426880917621369 |
| Abnormal pigmentation of the oral mucosa 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal ureter morphology 24 107 0.6937615691878024 0.9570626597628086 |
| Abscess 9 32 0.9419901179145592 0.6259959703187616 |
| Focal emotional seizure 9 33 0.9026148172980222 0.6667162820541698 |
| Epiretinal membrane 2 7 0.963076923076923 0.6566171786481523 |
| Increased fibular diameter 0 3 0.0 1.0 |
| Posterior blepharitis 1 4 0.8025186671124485 0.7508451551458319 |
| Parietal cortical atrophy 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal right atrium morphology 3 11 0.9028103044496488 0.6702945765004975 |
| Abnormal trabecular bone morphology 5 20 0.8022542126994755 0.7426880917621369 |
| Female sexual dysfunction 4 27 0.4179617018799837 0.9762797120159576 |
| Anasarca 1 4 0.8025186671124485 0.7508451551458319 |
| Reactive hypoglycemia 1 3 1.2039451688398528 0.6473218534129999 |
| Low serum calcitriol 0 3 0.0 1.0 |
| Choroidal melanoma 1 7 0.401092165385044 0.9121715035098086 |
| Cutaneous melanoma 2 17 0.3205797101449275 0.9781099893195382 |
| Bone cyst 2 22 0.2402675585284281 0.9951679606656662 |
| Abnormal female reproductive system physiology 56 203 0.9156610873232128 0.7347843742328181 |
| Pain in head and neck region 4 20 0.6014056224899599 0.8812712129159418 |
| Personality disorder 0 9 0.0 1.0 |
| Enlarged cerebellum 1 6 0.4813774657305249 0.8756637428026797 |
| Dyspareunia 3 15 0.6015389762462362 0.8618328607283439 |
| Early onset of sexual maturation 39 137 0.9576356109663642 0.6217115383135822 |
| Neoplasm of the peripheral nervous system 12 51 0.7398038203407331 0.8582578855024988 |
| Abnormal pancreas morphology 16 64 0.8015232974910395 0.8159325803975667 |
| Increased female libido 1 6 0.4813774657305249 0.8756637428026797 |
| Macular hemorrhage 0 2 0.0 1.0 |
| Abnormal morphology of the choroidal vasculature 1 13 0.2003789145213418 0.9890984267926946 |
| Open angle glaucoma 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormal monocyte morphology 2 8 0.8024526198439242 0.7316356285104274 |
| Erythematous plaque 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of von willebrand factor 0 5 0.0 1.0 |
| Hemothorax 0 3 0.0 1.0 |
| Hypotriglyceridemia 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal circulating beta globulin level 0 4 0.0 1.0 |
| Abnormal circulating thyroglobulin level 0 1 0.0 1.0 |
| Abnormal cell morphology 4 14 0.9630522088353414 0.624675255970463 |
| Decreased corneal sensation 0 3 0.0 1.0 |
| Hemophagocytosis 0 4 0.0 1.0 |
| Subcortical cerebral atrophy 3 17 0.515461453902404 0.9142722919386124 |
| Asterixis 1 2 2.4082246740220663 0.5008051893494083 |
| Oligodactyly 7 22 1.1239084310441094 0.4786794787334251 |
| Skin picking 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormal cerebral vascular morphology 63 215 0.9979065964672692 0.5317048781000664 |
| Abnormal number of granulocyte precursors 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormality of bladder morphology 10 46 0.6677099634846114 0.9060643457469733 |
| Abnormal granulocytopoietic cell morphology 3 9 1.2040816326530612 0.5196282464541333 |
| Eccentric visual fixation 0 2 0.0 1.0 |
| Increased mean corpuscular hemoglobin concentration 3 10 1.031926587965397 0.5996338369181741 |
| Abnormality of circulating glucocorticoid level 10 38 0.8594423684966944 0.7163451728683593 |
| Hepatitis 15 49 1.0625580430358237 0.4762261914662168 |
| Decreased mean corpuscular hemoglobin concentration 0 1 0.0 1.0 |
| Methemoglobinemia 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormal mean corpuscular hemoglobin concentration 3 11 0.9028103044496488 0.6702945765004975 |
| Abnormal t cell subset distribution 9 33 0.9026148172980222 0.6667162820541698 |
| Abnormal b cell subset distribution 2 9 0.6877209746774964 0.7922091662556401 |
| Anterior uveitis 3 8 1.4450986952157912 0.4315618290558272 |
| Posterior uveitis 0 4 0.0 1.0 |
| Hypoplastic hippocampus 2 6 1.2040133779264215 0.5656089450744413 |
| Angioedema 1 3 1.2039451688398528 0.6473218534129999 |
| Morning glory anomaly 2 5 1.6055741360089186 0.458274002951101 |
| Overweight 6 21 0.9630274614869392 0.6124722534016208 |
| Laryngeal dystonia 3 10 1.031926587965397 0.5996338369181741 |
| Hemeralopia 0 3 0.0 1.0 |
| Retinal flecks 0 1 0.0 1.0 |
| Flexion contracture of digit 62 229 0.8916515092681531 0.7977665799408462 |
| Abnormality of metacarpophalangeal joint 4 12 1.2041499330655958 0.4872403627234796 |
| Cholangitis 2 8 0.8024526198439242 0.7316356285104274 |
| Truncal titubation 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormality of the glenoid fossa 1 6 0.4813774657305249 0.8756637428026797 |
| Cardiovascular calcification 8 26 1.0703008638665474 0.5102183235563419 |
| Hypoplasia of the ear cartilage 3 8 1.4450986952157912 0.4315618290558272 |
| Mediastinal lymphadenopathy 4 16 0.8023203926818384 0.7360995100844776 |
| Abnormal liver parenchyma morphology 1 6 0.4813774657305249 0.8756637428026797 |
| Prolonged bleeding following circumcision 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal muscle fiber alpha dystroglycan 1 10 0.2672833314759092 0.969051322224564 |
| Abnormal muscle fiber protein expression 6 21 0.9630274614869392 0.6124722534016208 |
| Increased serum testosterone level 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal superior cerebellar peduncle morphology 2 11 0.5347454477889261 0.8781437590361336 |
| Elongated superior cerebellar peduncle 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal bowel sounds 0 5 0.0 1.0 |
| Cholangiocarcinoma 1 4 0.8025186671124485 0.7508451551458319 |
| Flank pain 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal vascular physiology 46 172 0.8771322966842315 0.7985651568338887 |
| Abnormal levels of alpha fetoprotein 6 23 0.8494937157716402 0.7085172143039323 |
| Abnormality of the testis size 25 109 0.7142054664804918 0.9461443264146576 |
| Abnormal platelet membrane protein expression 0 2 0.0 1.0 |
| Abnormal platelet granules 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormal umbilical stump bleeding 0 1 0.0 1.0 |
| Hyperkeratotic papule 1 8 0.3437455222811291 0.9379623427931464 |
| Thin eyebrow 14 49 0.9629281396910678 0.6009528499718345 |
| Hemorrhage of the eye 9 30 1.0319908050380728 0.537377176470804 |
| Bleeding with minor or no trauma 1 3 1.2039451688398528 0.6473218534129999 |
| Prolonged bleeding following procedure 2 8 0.8024526198439242 0.7316356285104274 |
| Post partum hemorrhage 1 3 1.2039451688398528 0.6473218534129999 |
| Gastrointestinal stroma tumor 2 12 0.4812040133779264 0.9075099812904824 |
| Neutrophilia 0 13 0.0 1.0 |
| Night sweats 2 8 0.8024526198439242 0.7316356285104274 |
| Abnormality of circulating fibrinogen 7 22 1.1239084310441094 0.4786794787334251 |
| Clinodactyly 125 431 0.9828428522903172 0.582020386674224 |
| Heteronymous hemianopia 4 16 0.8023203926818384 0.7360995100844776 |
| Abnormal drinking behavior 4 15 0.8753803091152489 0.6838446456385155 |
| Tongue thrusting 3 9 1.2040816326530612 0.5196282464541333 |
| Inguinal freckling 1 5 0.6018054162487463 0.8239879431862632 |
| Focal cognitive seizure with deja vu jamais vu 0 5 0.0 1.0 |
| Lens luxation 0 7 0.0 1.0 |
| Knee joint hypermobility 0 2 0.0 1.0 |
| Hepatocellular adenoma 2 11 0.5347454477889261 0.8781437590361336 |
| Tip toe gait 2 10 0.6016722408026756 0.8403529985689939 |
| Postprandial hyperglycemia 0 2 0.0 1.0 |
| Abnormal urine hormone level 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal sharpey fiber morphology 4 15 0.8753803091152489 0.6838446456385155 |
| Decreased libido 1 7 0.401092165385044 0.9121715035098086 |
| Corneal stromal edema 0 1 0.0 1.0 |
| Decreased fertility in males 10 65 0.4358880556063654 0.99721337497425 |
| Pendular nystagmus 5 18 0.9259354639334552 0.6451159513320872 |
| Seesaw nystagmus 0 3 0.0 1.0 |
| Increased urinary cortisol level 2 5 1.6055741360089186 0.458274002951101 |
| Stiff skin 2 5 1.6055741360089186 0.458274002951101 |
| Limb myoclonus 5 17 1.0032362459546926 0.5884307536605788 |
| Enthesitis 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal arachnoid mater morphology 8 32 0.8020554066130474 0.7646961206123176 |
| Scarring 31 105 1.008744306616647 0.5209858326822338 |
| Substantia nigra gliosis 1 10 0.2672833314759092 0.969051322224564 |
| Non obstructive azoospermia 1 12 0.2186255736907692 0.9845631783003476 |
| Obstructive azoospermia 0 4 0.0 1.0 |
| Abnormal circulating citrulline concentration 4 12 1.2041499330655958 0.4872403627234796 |
| Burkitt lymphoma 1 6 0.4813774657305249 0.8756637428026797 |
| Tibial torsion 2 9 0.6877209746774964 0.7922091662556401 |
| Cerebral amyloid angiopathy 1 5 0.6018054162487463 0.8239879431862632 |
| Hypoglycorrhachia 1 6 0.4813774657305249 0.8756637428026797 |
| Lung adenocarcinoma 2 15 0.3700025726781579 0.9606307441557927 |
| Primitive neuroectodermal tumor 16 51 1.1012288786482334 0.4266155072229818 |
| Iridodonesis 0 1 0.0 1.0 |
| Abnormality of the curvature of the cornea 68 233 0.992107117688513 0.546825886572897 |
| Impaired neutrophil bactericidal activity 1 4 0.8025186671124485 0.7508451551458319 |
| Recurrent acute respiratory tract infection 2 7 0.963076923076923 0.6566171786481523 |
| Spider hemangioma 1 5 0.6018054162487463 0.8239879431862632 |
| Multicystic kidney dysplasia 17 95 0.522051282051282 0.9964273790165028 |
| Deviation of the 5th toe 0 10 0.0 1.0 |
| Abnormality of the upper respiratory tract 85 296 0.9690695934148168 0.617183102553637 |
| Pulmonary hypoplasia 25 85 1.0032580608920345 0.5357552913436526 |
| Restrictive ventilatory defect 9 41 0.6762068387529333 0.8902573628773259 |
| Emphysema 8 31 0.8370439445156778 0.7300210830440621 |
| Asthma 20 68 1.003252579632122 0.5411079819896368 |
| Abnormal pleura morphology 22 80 0.9126436781609196 0.6821578115922043 |
| Hemoptysis 4 28 0.4004908522980812 0.9814592752917354 |
| Pneumothorax 6 30 0.601138647019424 0.9122157934436538 |
| Spontaneous pneumothorax 0 3 0.0 1.0 |
| Bronchiectasis 16 65 0.7850559578670178 0.8355053091693888 |
| Pulmonary infiltrates 6 26 0.721768251841929 0.8195103866850959 |
| Occipital encephalocele 4 28 0.4004908522980812 0.9814592752917354 |
| Episodic ataxia 5 17 1.0032362459546926 0.5884307536605788 |
| Basal ganglia calcification 7 31 0.7015633724176438 0.8481020736427258 |
| Subarachnoid hemorrhage 1 20 0.1264319273610304 0.9990460817539482 |
| Ischemic stroke 3 19 0.4509033121445299 0.9479246404767652 |
| Abnormality of the spinal cord 67 242 0.9200351648351648 0.7387225938637825 |
| Hypophosphatemia 6 22 0.9027126590756864 0.6626445438959574 |
| Homocystinuria 2 9 0.6877209746774964 0.7922091662556401 |
| Hyperhomocystinemia 3 10 1.031926587965397 0.5996338369181741 |
| Nail dysplasia 28 105 0.8743712427922954 0.7599313943522711 |
| Impaired vibration sensation in the lower limbs 12 39 1.0703952274422073 0.4824923970858958 |
| Scanning speech 3 9 1.2040816326530612 0.5196282464541333 |
| Intracranial hemorrhage 22 96 0.7137137137137137 0.9363856415075708 |
| Porencephalic cyst 4 24 0.4808567603748326 0.9514162494820924 |
| Postural instability 16 58 0.916794674859191 0.6638043014691519 |
| Encephalocele 11 86 0.350750307503075 0.9999224917260228 |
| Migraine with aura 0 3 0.0 1.0 |
| Fetal akinesia sequence 5 15 1.2042182792099096 0.4619594343599049 |
| Aplasia hypoplasia of toe 32 120 0.8742014742014742 0.7711900923062861 |
| Hyperchloremic acidosis 2 6 1.2040133779264215 0.5656089450744413 |
| Short columella 1 14 0.1849394336856724 0.9923015601562292 |
| Large forehead 5 19 0.8596776507723947 0.6966080955472779 |
| Potter facies 1 5 0.6018054162487463 0.8239879431862632 |
| Nausea 16 55 0.9877309070857458 0.567446454031113 |
| Anal atresia 27 109 0.7909102126434417 0.8781935155324267 |
| Anal stenosis 4 26 0.4370208105147864 0.9697599170039232 |
| Abnormal esophagus morphology 40 151 0.8658658658658659 0.8059743649628007 |
| Esophageal atresia 6 21 0.9630274614869392 0.6124722534016208 |
| Migraine without aura 0 1 0.0 1.0 |
| Rectal prolapse 9 31 0.984944991314418 0.5827692698138716 |
| Protein avoidance 1 4 0.8025186671124485 0.7508451551458319 |
| Esophageal varix 3 21 0.4006914241106278 0.9689174597054394 |
| Intractable diarrhea 3 8 1.4450986952157912 0.4315618290558272 |
| Zollinger ellison syndrome 0 8 0.0 1.0 |
| Heat intolerance 5 16 1.0945917156161549 0.5270800523063662 |
| Malignant hyperthermia 3 10 1.031926587965397 0.5996338369181741 |
| Proximal renal tubular acidosis 2 7 0.963076923076923 0.6566171786481523 |
| Myopathic facies 6 35 0.4971476083793334 0.96790448615865 |
| Bradykinesia 22 74 1.0188034188034187 0.5149946613202213 |
| Neuromuscular dysphagia 1 8 0.3437455222811291 0.9379623427931464 |
| Migraine 22 74 1.0188034188034187 0.5149946613202213 |
| Inflammation of the large intestine 12 47 0.8248130393096836 0.765806154020295 |
| Spinal cord compression 4 21 0.56595007480904 0.9043043121411438 |
| Phonophobia 6 19 1.1114946674223298 0.500937947493563 |
| Neurofibrillary tangles 4 14 0.9630522088353414 0.624675255970463 |
| Gray matter heterotopia 27 99 0.9020236087689714 0.7106462513382358 |
| Frontal balding 3 9 1.2040816326530612 0.5196282464541333 |
| Alopecia of scalp 7 22 1.1239084310441094 0.4786794787334251 |
| Red hair 1 2 2.4082246740220663 0.5008051893494083 |
| Absent hair 10 33 1.0470066777476452 0.5174084723579307 |
| Mutism 14 46 1.053643384822028 0.4908860254433825 |
| Hemiplegia 0 20 0.0 1.0 |
| Arnold chiari malformation 20 73 0.9079712537139084 0.6850578631003071 |
| Degeneration of the lateral corticospinal tracts 5 19 0.8596776507723947 0.6966080955472779 |
| Cervical myelopathy 1 7 0.401092165385044 0.9121715035098086 |
| Anencephaly 13 53 0.781570996978852 0.821292744182268 |
| Poor motor coordination 13 42 1.0796842263661723 0.4670336914638366 |
| Hydranencephaly 2 7 0.963076923076923 0.6566171786481523 |
| Agenesis of cerebellar vermis 2 10 0.6016722408026756 0.8403529985689939 |
| Caudate atrophy 2 9 0.6877209746774964 0.7922091662556401 |
| Cervical cord compression 0 5 0.0 1.0 |
| Focal aware seizure 1 14 0.1849394336856724 0.9923015601562292 |
| Cerebellar cyst 36 124 0.9848074793947597 0.5647433368050959 |
| Writer s cramp 2 11 0.5347454477889261 0.8781437590361336 |
| Abnormal lower motor neuron morphology 8 25 1.1334174420438416 0.4592530866816477 |
| Visual hallucinations 5 17 1.0032362459546926 0.5884307536605788 |
| Infectious encephalitis 8 25 1.1334174420438416 0.4592530866816477 |
| Focal impaired awareness seizure 20 75 0.874709409029732 0.7349049247406505 |
| Eeg with polyspike wave complexes 7 25 0.9361995160990136 0.6329105152499283 |
| Transient ischemic attack 7 36 0.5801998498238318 0.9371225820839008 |
| Abnormality of the autonomic nervous system 51 190 0.8813989271010937 0.8001329520385151 |
| Paroxysmal dystonia 2 11 0.5347454477889261 0.8781437590361336 |
| Focal clonic seizure 0 7 0.0 1.0 |
| Dysgenesis of the cerebellar vermis 2 7 0.963076923076923 0.6566171786481523 |
| Myelopathy 2 13 0.4373973852234721 0.9301401965681808 |
| Hypocalcemic seizures 1 6 0.4813774657305249 0.8756637428026797 |
| Pleural effusion 11 44 0.8018562003801856 0.7856499149590389 |
| Pulmonary embolism 3 19 0.4509033121445299 0.9479246404767652 |
| White forelock 2 9 0.6877209746774964 0.7922091662556401 |
| Fine hair 15 51 1.0032471167842347 0.5487550988425911 |
| Premature graying of hair 7 36 0.5801998498238318 0.9371225820839008 |
| Silver gray hair 0 4 0.0 1.0 |
| Absent axillary hair 1 4 0.8025186671124485 0.7508451551458319 |
| Absent eyebrow 5 20 0.8022542126994755 0.7426880917621369 |
| White eyebrow 0 4 0.0 1.0 |
| Pili canaliculi 1 2 2.4082246740220663 0.5008051893494083 |
| Gastrointestinal hemorrhage 27 94 0.970018373562206 0.5917007042200413 |
| Protein losing enteropathy 3 11 0.9028103044496488 0.6702945765004975 |
| Abnormality of the small intestine 49 164 1.026344014537074 0.4696264330936239 |
| Abnormal duodenum morphology 13 64 0.612055631248807 0.9622142471468196 |
| Duodenal atresia 6 28 0.6559702855751081 0.8727874069814987 |
| Hematemesis 0 9 0.0 1.0 |
| Melena 1 16 0.1602362643486013 0.9961613672451204 |
| Aganglionic megacolon 16 103 0.4398096650599431 0.99965562759051 |
| Intermittent diarrhea 4 16 0.8023203926818384 0.7360995100844776 |
| Chronic rhinitis 2 21 0.2529484245731385 0.9934365625959856 |
| Exaggerated cupid s bow 6 20 1.031958664242656 0.5583681068930001 |
| Large fleshy ears 2 7 0.963076923076923 0.6566171786481523 |
| Recurrent hypoglycemia 2 13 0.4373973852234721 0.9301401965681808 |
| Cogwheel rigidity 4 16 0.8023203926818384 0.7360995100844776 |
| Extramedullary hematopoiesis 3 11 0.9028103044496488 0.6702945765004975 |
| Tubulointerstitial nephritis 5 17 1.0032362459546926 0.5884307536605788 |
| Complete atrioventricular canal defect 3 11 0.9028103044496488 0.6702945765004975 |
| Coronary artery atherosclerosis 3 26 0.313366401442972 0.9919433614038574 |
| Angina pectoris 3 19 0.4509033121445299 0.9479246404767652 |
| Subvalvular aortic stenosis 4 12 1.2041499330655958 0.4872403627234796 |
| Secundum atrial septal defect 2 10 0.6016722408026756 0.8403529985689939 |
| Loss of voice 2 6 1.2040133779264215 0.5656089450744413 |
| Sinus bradycardia 2 8 0.8024526198439242 0.7316356285104274 |
| Atrial arrhythmia 9 40 0.6981172882895548 0.8718012139583292 |
| Cardiac shunt 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormal pericardium morphology 10 34 1.0032416722557569 0.5612326577724895 |
| Pericardial effusion 5 22 0.7076744323440792 0.8188911287130645 |
| Asymmetric septal hypertrophy 2 7 0.963076923076923 0.6566171786481523 |
| Tricuspid valve prolapse 3 11 0.9028103044496488 0.6702945765004975 |
| Abnormal right ventricle morphology 8 34 0.7401526087853165 0.8241602173122456 |
| Abnormal left ventricle morphology 25 82 1.0565045914415294 0.4511527813686236 |
| Mitral stenosis 3 14 0.6563155813741294 0.8262352177182655 |
| High output congestive heart failure 0 2 0.0 1.0 |
| Restrictive cardiomyopathy 3 8 1.4450986952157912 0.4315618290558272 |
| Annular pancreas 4 16 0.8023203926818384 0.7360995100844776 |
| Acute pancreatitis 2 7 0.963076923076923 0.6566171786481523 |
| Pancreatic cysts 4 26 0.4370208105147864 0.9697599170039232 |
| Nasal congestion 1 23 0.1091456186742044 0.999664397240253 |
| Accessory spleen 6 24 0.8021879883902657 0.7499274740177471 |
| Polysplenia 2 26 0.2001114827201783 0.9986030317314992 |
| Endocardial fibroelastosis 1 4 0.8025186671124485 0.7508451551458319 |
| Vestibular hypofunction 0 2 0.0 1.0 |
| Transposition of the great arteries 4 36 0.3000334672021419 0.9976724366574974 |
| Torsade de pointes 2 7 0.963076923076923 0.6566171786481523 |
| Fetal polyuria 1 4 0.8025186671124485 0.7508451551458319 |
| Multiple impacted teeth 1 3 1.2039451688398528 0.6473218534129999 |
| Primary hypercortisolism 2 11 0.5347454477889261 0.8781437590361336 |
| Recurrent skin infections 12 57 0.6406263982102909 0.9403517013741398 |
| Bell shaped thorax 2 19 0.2827857564430454 0.9879599699433071 |
| Selective tooth agenesis 5 26 0.5725604604077988 0.9166742426731276 |
| Concave nail 3 13 0.7220475075276012 0.7830437973449951 |
| Abnormality of the larynx 42 148 0.9533610489286856 0.6331148480370322 |
| Laryngomalacia 12 61 0.5880016436104644 0.9686305460580584 |
| Laryngeal stenosis 3 12 0.8023865283818445 0.7313126477609548 |
| Subglottic stenosis 2 12 0.4812040133779264 0.9075099812904824 |
| Right ventricular hypertrophy 4 15 0.8753803091152489 0.6838446456385155 |
| Weak cry 8 25 1.1334174420438416 0.4592530866816477 |
| Weak voice 4 19 0.6415885765283356 0.8535545886886166 |
| Mitral valve prolapse 21 81 0.8416021541568496 0.7866117283304157 |
| Tetralogy of fallot 41 143 0.967375632055601 0.6021468880181488 |
| Abnormal pulmonary valve morphology 13 59 0.679057752090722 0.9195582573923452 |
| Pulmonic stenosis 28 98 0.962753036437247 0.604952380100976 |
| Abnormal aortic valve morphology 39 130 1.032315804750617 0.4676708152234273 |
| Cor pulmonale 2 9 0.6877209746774964 0.7922091662556401 |
| Aortic valve stenosis 8 43 0.5491382612026043 0.962286746736804 |
| Abnormal heart valve morphology 73 263 0.9232109049602424 0.7377016389951282 |
| Bradycardia 10 35 0.9629778672032192 0.6033438962742741 |
| Ventricular fibrillation 4 15 0.8753803091152489 0.6838446456385155 |
| Hoarse cry 2 5 1.6055741360089186 0.458274002951101 |
| Talipes equinovarus 68 248 0.9074935400516796 0.7705158077045712 |
| Pes planus 66 246 0.8802005012531329 0.8282133285144069 |
| Broad foot 8 26 1.0703008638665474 0.5102183235563419 |
| Lymphopenia 24 81 1.0139026812313805 0.5196417927074369 |
| Iron deficiency anemia 4 16 0.8023203926818384 0.7360995100844776 |
| Abnormal bleeding 92 321 0.9662701400391508 0.6288007757617171 |
| Increased hematocrit 0 3 0.0 1.0 |
| Increased hemoglobin 0 3 0.0 1.0 |
| Polycythemia 2 9 0.6877209746774964 0.7922091662556401 |
| Congenital thrombocytopenia 1 4 0.8025186671124485 0.7508451551458319 |
| Thromboembolism 4 13 1.0702067529376766 0.5588754825262198 |
| Hypoplastic anemia 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal basophil morphology 0 8 0.0 1.0 |
| Renal amyloidosis 0 1 0.0 1.0 |
| Abnormal eosinophil morphology 7 28 0.8021217197096594 0.7573372587936686 |
| Acute kidney injury 4 15 0.8753803091152489 0.6838446456385155 |
| Sideroblastic anemia 10 32 1.094750320102433 0.4723010351743333 |
| Reduced factor xi activity 1 9 0.3007355399531929 0.9561814898792792 |
| Subcutaneous hemorrhage 35 139 0.80805650217216 0.8820483764528637 |
| Persistent bleeding after trauma 0 1 0.0 1.0 |
| Microangiopathic hemolytic anemia 0 5 0.0 1.0 |
| Alkalosis 4 12 1.2041499330655958 0.4872403627234796 |
| Respiratory alkalosis 1 4 0.8025186671124485 0.7508451551458319 |
| Diabetic ketoacidosis 0 2 0.0 1.0 |
| Hypoplastic heart 3 25 0.3276559506067703 0.9893837332076776 |
| Palpitations 15 48 1.094909457354872 0.4392232039160477 |
| Aplasia hypoplasia of metatarsal bones 5 44 0.3075292077635566 0.9988312727582074 |
| Vacuolated lymphocytes 3 9 1.2040816326530612 0.5196282464541333 |
| Deep plantar creases 5 16 1.0945917156161549 0.5270800523063662 |
| Clinodactyly of the 5th toe 0 7 0.0 1.0 |
| Toe clinodactyly 21 76 0.9187540160949788 0.670565580938441 |
| Toe syndactyly 53 188 0.9442793593184884 0.663647443966887 |
| Talipes equinovalgus 2 9 0.6877209746774964 0.7922091662556401 |
| Short foot 26 100 0.8446173752984272 0.8007371753593894 |
| Bilateral talipes equinovarus 4 12 1.2041499330655958 0.4872403627234796 |
| Abnormality of toe 158 543 0.9874547470877746 0.5685398350039716 |
| Broad metatarsal 0 7 0.0 1.0 |
| Ankle swelling 0 4 0.0 1.0 |
| Narrow foot 2 6 1.2040133779264215 0.5656089450744413 |
| Nail pits 1 3 1.2039451688398528 0.6473218534129999 |
| Onychogryposis 2 15 0.3700025726781579 0.9606307441557927 |
| Ridged nail 5 18 0.9259354639334552 0.6451159513320872 |
| Deep set nails 2 5 1.6055741360089186 0.458274002951101 |
| Thin nail 3 10 1.031926587965397 0.5996338369181741 |
| Broad nail 1 5 0.6018054162487463 0.8239879431862632 |
| Weight loss 66 222 1.019086176980914 0.4750387283610152 |
| Postaxial foot polydactyly 8 47 0.4925414174743933 0.9827457348742088 |
| Abnormal metatarsal morphology 21 105 0.5991248737798721 0.9890916861919494 |
| Broad toe 24 88 0.902122641509434 0.7035470241648372 |
| Split foot 0 3 0.0 1.0 |
| Preaxial foot polydactyly 3 15 0.6015389762462362 0.8618328607283439 |
| Abnormality of the hallux 49 166 1.0085150625415662 0.5099788906143025 |
| Long hallux 3 10 1.031926587965397 0.5996338369181741 |
| Foot oligodactyly 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormality of the tarsal bones 22 81 0.8970495919648462 0.7067546837432688 |
| Sandal gap 22 72 1.0598518518518518 0.4546169658593453 |
| Leukocytosis 23 78 1.0069322391989957 0.5319136048412896 |
| Stroke like episode 5 17 1.0032362459546926 0.5884307536605788 |
| Limb dysmetria 1 8 0.3437455222811291 0.9379623427931464 |
| Cerebral arteriovenous malformation 0 4 0.0 1.0 |
| Lumbar hyperlordosis 16 56 0.9629032258064516 0.6007858199002952 |
| Thoracolumbar scoliosis 6 22 0.9027126590756864 0.6626445438959574 |
| Intervertebral space narrowing 0 6 0.0 1.0 |
| Supernumerary vertebrae 0 4 0.0 1.0 |
| Cervical kyphosis 2 6 1.2040133779264215 0.5656089450744413 |
| Vertebral fusion 10 41 0.7759459985720776 0.8061793511413671 |
| Granulomatosis 1 3 1.2039451688398528 0.6473218534129999 |
| Immune dysregulation 1 4 0.8025186671124485 0.7508451551458319 |
| Dysgammaglobulinemia 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal delayed hypersensitivity skin test 2 9 0.6877209746774964 0.7922091662556401 |
| Cutaneous anergy 0 4 0.0 1.0 |
| Hemivertebrae 11 38 0.98086647533142 0.5825045433654102 |
| Genu varum 9 32 0.9419901179145592 0.6259959703187616 |
| Abnormality of the forearm 43 171 0.8060677348253645 0.9048218845298084 |
| Femoral bowing 8 27 1.0138281360237054 0.5594971156534121 |
| Abnormality of the calf 55 188 0.995606995015629 0.5387785150451424 |
| Tibial bowing 3 22 0.3795495765174059 0.9761225818261172 |
| Micromelia 21 71 1.0113362504207335 0.5277781826773629 |
| Hypoplasia of the radius 8 33 0.7698659517426274 0.7960496689507663 |
| Abnormality of fibula morphology 11 36 1.059630996309963 0.4992096541396956 |
| Abnormality of tibia morphology 11 58 0.561906257360446 0.9745091303845588 |
| Abnormality of the ulna 33 122 0.8915667683054175 0.7429109361100267 |
| Glomus jugular tumor 1 5 0.6018054162487463 0.8239879431862632 |
| Breast carcinoma 18 61 1.0079448241347493 0.5372868876776922 |
| Reduced delayed hypersensitivity 2 5 1.6055741360089186 0.458274002951101 |
| Ganglioneuroma 0 2 0.0 1.0 |
| Elevated circulating thyroid stimulating hormone concentration 1 9 0.3007355399531929 0.9561814898792792 |
| Decreased circulating acth level 4 22 0.5344340324260003 0.9232850195617416 |
| Abnormal t cell morphology 13 42 1.0796842263661723 0.4670336914638366 |
| Abnormal b cell morphology 9 34 0.8663895407308079 0.7046903868020313 |
| Decreased specific anti polysaccharide antibody level 2 6 1.2040133779264215 0.5656089450744413 |
| Decreased circulating total igm 8 25 1.1334174420438416 0.4592530866816477 |
| Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells 1 4 0.8025186671124485 0.7508451551458319 |
| Genu valgum 31 108 0.9690346802808808 0.5946920030625426 |
| Meningioma 6 35 0.4971476083793334 0.96790448615865 |
| Squamous cell carcinoma 12 46 0.8491906829846032 0.7372175012589298 |
| Melanoma 17 68 0.8014565826330532 0.821331902288539 |
| Hypoplastic iliac wing 0 17 0.0 1.0 |
| Abnormal ilium morphology 17 67 0.8176 0.8011256170893752 |
| Rheumatoid factor positive 3 10 1.031926587965397 0.5996338369181741 |
| Flared iliac wing 5 15 1.2042182792099096 0.4619594343599049 |
| Exertional dyspnea 18 66 0.902320107599193 0.6886666938119814 |
| Episodic tachypnea 7 37 0.5607816862088219 0.9479786567446656 |
| Nocturnal hypoventilation 2 11 0.5347454477889261 0.8781437590361336 |
| Anisospondyly 1 3 1.2039451688398528 0.6473218534129999 |
| Sudden episodic apnea 4 13 1.0702067529376766 0.5588754825262198 |
| Hyperventilation 6 23 0.8494937157716402 0.7085172143039323 |
| Ependymoma 3 19 0.4509033121445299 0.9479246404767652 |
| Pituitary adenoma 10 37 0.8913977693320416 0.6811239545646374 |
| Neoplasm of the pancreas 21 71 1.0113362504207335 0.5277781826773629 |
| Hyperphosphatemia 2 8 0.8024526198439242 0.7316356285104274 |
| Hypermagnesemia 1 2 2.4082246740220663 0.5008051893494083 |
| Apneic episodes precipitated by illness fatigue stress 2 7 0.963076923076923 0.6566171786481523 |
| Prolonged bleeding time 6 24 0.8021879883902657 0.7499274740177471 |
| Flared metaphysis 7 30 0.7321680868108659 0.8214386241493598 |
| Metaphyseal widening 15 58 0.839107576692628 0.7639009510193251 |
| Hamstring contractures 1 4 0.8025186671124485 0.7508451551458319 |
| Limited hip extension 1 3 1.2039451688398528 0.6473218534129999 |
| Septic arthritis 1 3 1.2039451688398528 0.6473218534129999 |
| Hyperphosphaturia 3 16 0.5551895411380189 0.8908482493424653 |
| Abnormal echocardiogram 4 17 0.7405004633920297 0.7815360505152051 |
| Increased circulating cortisol level 3 15 0.6015389762462362 0.8618328607283439 |
| Hypercholesterolemia 11 41 0.8824108241082411 0.6942910103050715 |
| Reduced factor viii activity 1 3 1.2039451688398528 0.6473218534129999 |
| Low molecular weight proteinuria 1 5 0.6018054162487463 0.8239879431862632 |
| Hypocalciuria 1 2 2.4082246740220663 0.5008051893494083 |
| Abnormality of the spinocerebellar tracts 2 8 0.8024526198439242 0.7316356285104274 |
| Premature osteoarthritis 2 5 1.6055741360089186 0.458274002951101 |
| Prolinuria 1 2 2.4082246740220663 0.5008051893494083 |
| Increased serum serotonin 1 10 0.2672833314759092 0.969051322224564 |
| Decreased adenosylcobalamin 1 7 0.401092165385044 0.9121715035098086 |
| Hyperuricosuria 1 4 0.8025186671124485 0.7508451551458319 |
| Increased circulating acth level 2 7 0.963076923076923 0.6566171786481523 |
| Hyperoxaluria 1 2 2.4082246740220663 0.5008051893494083 |
| Fasting hypoglycemia 3 9 1.2040816326530612 0.5196282464541333 |
| Hypothalamic gonadotropin releasing hormone deficiency 1 7 0.401092165385044 0.9121715035098086 |
| Elevated circulating parathyroid hormone level 2 10 0.6016722408026756 0.8403529985689939 |
| Abnormality of the pubic bone 6 26 0.721768251841929 0.8195103866850959 |
| Abnormality of the ischium 1 17 0.1502006018054162 0.9972895783561956 |
| Hypoplastic ischia 0 11 0.0 1.0 |
| Increased blood urea nitrogen 2 10 0.6016722408026756 0.8403529985689939 |
| Acromesomelia 1 3 1.2039451688398528 0.6473218534129999 |
| Increased urinary potassium 0 2 0.0 1.0 |
| Defective dna repair after ultraviolet radiation damage 3 14 0.6563155813741294 0.8262352177182655 |
| Abnormality of the wrist 25 96 0.8465182737815501 0.7943893730167149 |
| Enlargement of the wrists 1 5 0.6018054162487463 0.8239879431862632 |
| Metaphyseal cupping 3 11 0.9028103044496488 0.6702945765004975 |
| Metaphyseal irregularity 9 31 0.984944991314418 0.5827692698138716 |
| Short long bone 28 156 0.5222250337381916 0.999645496110115 |
| Mesomelia 6 24 0.8021879883902657 0.7499274740177471 |
| Enlargement of the ankles 0 2 0.0 1.0 |
| Ulnar bowing 2 12 0.4812040133779264 0.9075099812904824 |
| Diaphyseal sclerosis 1 7 0.401092165385044 0.9121715035098086 |
| Enlarged joints 1 7 0.401092165385044 0.9121715035098086 |
| Fibular hypoplasia 5 17 1.0032362459546926 0.5884307536605788 |
| Arthropathy 5 17 1.0032362459546926 0.5884307536605788 |
| Humeroradial synostosis 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal shoulder morphology 27 96 0.941637949996334 0.6416362123508409 |
| Shoulder flexion contracture 0 3 0.0 1.0 |
| Abnormal patella morphology 24 80 1.0321524836349634 0.4909214759782831 |
| Ulnar deviation of the wrist 3 12 0.8023865283818445 0.7313126477609548 |
| Enlarged metaphyses 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of the humerus 13 41 1.1184002301827076 0.4270837152483193 |
| Patellar hypoplasia 1 8 0.3437455222811291 0.9379623427931464 |
| Limited knee extension 1 11 0.2405215646940822 0.9781420785502122 |
| Flattened epiphysis 3 15 0.6015389762462362 0.8618328607283439 |
| Hyperglycemia 7 21 1.204355108877722 0.4231077406436607 |
| Hypoproteinemia 2 12 0.4812040133779264 0.9075099812904824 |
| Glycosuria 7 21 1.204355108877722 0.4231077406436607 |
| Lymphadenitis 0 6 0.0 1.0 |
| Urinary bladder sphincter dysfunction 8 26 1.0703008638665474 0.5102183235563419 |
| Recurrent bronchitis 3 19 0.4509033121445299 0.9479246404767652 |
| Genu recurvatum 0 21 0.0 1.0 |
| Intestinal malrotation 27 94 0.970018373562206 0.5917007042200413 |
| Episodic vomiting 10 31 1.147040976014819 0.4264187260832318 |
| Hematochezia 0 7 0.0 1.0 |
| Tracheoesophageal fistula 19 68 0.9331946704009556 0.6452749215390455 |
| Intussusception 1 6 0.4813774657305249 0.8756637428026797 |
| Chronic atrophic gastritis 1 5 0.6018054162487463 0.8239879431862632 |
| Colitis 8 39 0.6203407420219667 0.922053398538728 |
| Intestinal bleeding 0 5 0.0 1.0 |
| Duodenal ulcer 0 9 0.0 1.0 |
| Gastrointestinal atresia 14 55 0.8213238546085931 0.7809687178830637 |
| Polyphagia 7 38 0.5426163073431675 0.957128702483415 |
| Low set nipples 3 9 1.2040816326530612 0.5196282464541333 |
| Celiac disease 4 14 0.9630522088353414 0.624675255970463 |
| Aortic root aneurysm 23 81 0.9544488449611502 0.6161934726732895 |
| Varicose veins 5 22 0.7076744323440792 0.8188911287130645 |
| Abnormal venous morphology 22 96 0.7137137137137137 0.9363856415075708 |
| Deep venous thrombosis 1 11 0.2405215646940822 0.9781420785502122 |
| Right aortic arch with mirror image branching 2 6 1.2040133779264215 0.5656089450744413 |
| Vasculitis 8 30 0.8752132585912746 0.6920206151109443 |
| Arteriosclerosis 14 48 0.9913878244380356 0.5653166618279781 |
| Budd chiari syndrome 0 4 0.0 1.0 |
| Neonatal respiratory distress 17 72 0.7427532467532467 0.8871789336500451 |
| Aortic dissection 4 22 0.5344340324260003 0.9232850195617416 |
| Skeletal dysplasia 37 129 0.9679393805635254 0.5991858526907222 |
| Congenital hepatic fibrosis 3 36 0.2181027403509839 0.9995456753241696 |
| Highly arched eyebrow 54 183 1.0080421739199266 0.5087854408988072 |
| Incomprehensible speech 1 5 0.6018054162487463 0.8239879431862632 |
| Olivopontocerebellar atrophy 1 7 0.401092165385044 0.9121715035098086 |
| Aqueductal stenosis 4 16 0.8023203926818384 0.7360995100844776 |
| Myokymia 2 9 0.6877209746774964 0.7922091662556401 |
| Spina bifida 32 121 0.8642575159429092 0.7881203541552182 |
| Subependymal cysts 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal midbrain morphology 6 62 0.2564826332408382 0.9999575947930628 |
| Molar tooth sign on mri 4 34 0.3201249442213297 0.996029957606291 |
| Long tract signs 1 3 1.2039451688398528 0.6473218534129999 |
| Expressive aphasia 2 10 0.6016722408026756 0.8403529985689939 |
| Meningocele 10 42 0.7515928906773978 0.8308770083779342 |
| Cerebellar malformation 54 192 0.9411016071270016 0.6722493869072318 |
| Hypothalamic hamartoma 2 11 0.5347454477889261 0.8781437590361336 |
| Astrocytosis 5 20 0.8022542126994755 0.7426880917621369 |
| Dense calcifications in the cerebellar dentate nucleus 0 4 0.0 1.0 |
| Small cerebral cortex 1 9 0.3007355399531929 0.9561814898792792 |
| Expressive language delay 9 35 0.8329508238995332 0.7397718642866234 |
| Myelomeningocele 4 17 0.7405004633920297 0.7815360505152051 |
| Morphological abnormality of the corticospinal tract 13 47 0.920265387121616 0.653833930646347 |
| Abnormal rapid eye movement sleep 0 5 0.0 1.0 |
| Spinocerebellar tract degeneration 2 6 1.2040133779264215 0.5656089450744413 |
| Alzheimer disease 1 4 0.8025186671124485 0.7508451551458319 |
| Brain stem compression 2 14 0.400891861761427 0.947457693040818 |
| Waddling gait 24 83 0.9792589885330532 0.5758116145918578 |
| Increased intracranial pressure 17 58 0.9983275261324042 0.551986092468864 |
| Falls 8 25 1.1334174420438416 0.4592530866816477 |
| Abnormal posturing 0 6 0.0 1.0 |
| Multiple epiphyseal dysplasia 0 6 0.0 1.0 |
| Oligohydramnios 30 111 0.8906644659514342 0.7374200637526201 |
| Spondyloepiphyseal dysplasia 2 7 0.963076923076923 0.6566171786481523 |
| Spondylometaphyseal dysplasia 0 6 0.0 1.0 |
| Follicular hyperplasia 1 11 0.2405215646940822 0.9781420785502122 |
| Chronic noninfectious lymphadenopathy 2 8 0.8024526198439242 0.7316356285104274 |
| Decreased lymphocyte apoptosis 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormality of the lymph nodes 34 128 0.8694057226705796 0.7847510087214766 |
| Hypoplastic frontal sinuses 1 3 1.2039451688398528 0.6473218534129999 |
| Recurrent klebsiella infections 0 1 0.0 1.0 |
| Bilateral cleft lip and palate 2 8 0.8024526198439242 0.7316356285104274 |
| Oral leukoplakia 4 12 1.2041499330655958 0.4872403627234796 |
| Rickets 6 20 1.031958664242656 0.5583681068930001 |
| Osteomalacia 4 18 0.6875119525721936 0.8205132217227086 |
| Sparse bone trabeculae 0 2 0.0 1.0 |
| Chronic mucocutaneous candidiasis 6 18 1.204286671131949 0.4410492397467304 |
| Thin bony cortex 1 5 0.6018054162487463 0.8239879431862632 |
| Tracheal stenosis 3 19 0.4509033121445299 0.9479246404767652 |
| Abnormal tracheal morphology 34 122 0.9294670846394985 0.67337783256201 |
| Tracheomalacia 11 37 1.018734033494181 0.5415287757310885 |
| Bronchomalacia 3 20 0.4243205478912876 0.9596870100427658 |
| Upper airway obstruction 4 13 1.0702067529376766 0.5588754825262198 |
| Recurrent lower respiratory tract infections 23 80 0.97132946883882 0.5887775635398947 |
| Tracheobronchomalacia 1 6 0.4813774657305249 0.8756637428026797 |
| Tachypnea 18 63 0.9628782784129118 0.6010069720271283 |
| Neonatal breathing dysregulation 1 5 0.6018054162487463 0.8239879431862632 |
| Reduced vital capacity 2 13 0.4373973852234721 0.9301401965681808 |
| Coxa vara 12 41 0.9962971534367044 0.5632219730786405 |
| Multiple exostoses 1 5 0.6018054162487463 0.8239879431862632 |
| Recurrent staphylococcus aureus infections 2 7 0.963076923076923 0.6566171786481523 |
| Recurrent aspergillus infections 1 2 2.4082246740220663 0.5008051893494083 |
| Recurrent abscess formation 2 8 0.8024526198439242 0.7316356285104274 |
| Painless fractures due to injury 2 5 1.6055741360089186 0.458274002951101 |
| Delayed epiphyseal ossification 4 12 1.2041499330655958 0.4872403627234796 |
| Lymphoma 20 79 0.8149508406140931 0.8187609460323371 |
| Pheochromocytoma 7 25 0.9361995160990136 0.6329105152499283 |
| Paraganglioma 6 19 1.1114946674223298 0.500937947493563 |
| Basal cell carcinoma 10 41 0.7759459985720776 0.8061793511413671 |
| Coxa valga 16 64 0.8015232974910395 0.8159325803975667 |
| Cloverleaf skull 1 8 0.3437455222811291 0.9379623427931464 |
| Skull asymmetry 1 3 1.2039451688398528 0.6473218534129999 |
| Deformed sella turcica 4 12 1.2041499330655958 0.4872403627234796 |
| Thickened calvaria 8 27 1.0138281360237054 0.5594971156534121 |
| Prenatal maternal abnormality 13 69 0.5570181748429482 0.98347502546515 |
| Abnormality of frontal sinus 1 7 0.401092165385044 0.9121715035098086 |
| Absent frontal sinuses 1 4 0.8025186671124485 0.7508451551458319 |
| Large sella turcica 1 4 0.8025186671124485 0.7508451551458319 |
| Platybasia 5 16 1.0945917156161549 0.5270800523063662 |
| Hypoplastic facial bones 14 47 1.021572338563608 0.5285394032571916 |
| Sclerosis of skull base 3 8 1.4450986952157912 0.4315618290558272 |
| Abnormal parietal bone morphology 3 18 0.4810304449648712 0.933024105996546 |
| Parietal foramina 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormal foramen magnum morphology 3 9 1.2040816326530612 0.5196282464541333 |
| Large foramen magnum 1 5 0.6018054162487463 0.8239879431862632 |
| High narrow palate 31 111 0.9323032759202972 0.6637053792041971 |
| Adrenal overactivity 4 19 0.6415885765283356 0.8535545886886166 |
| Recurrent bacterial infections 18 87 0.6258588930148241 0.9744570553301546 |
| Epiphyseal dysplasia 5 17 1.0032362459546926 0.5884307536605788 |
| Squared iliac bones 1 5 0.6018054162487463 0.8239879431862632 |
| Polyhydramnios 43 170 0.8125295375717914 0.8965194298221715 |
| Asymmetry of the thorax 1 6 0.4813774657305249 0.8756637428026797 |
| Long neck 1 4 0.8025186671124485 0.7508451551458319 |
| Thickened nuchal skin fold 10 50 0.6006036217303823 0.950954780091377 |
| Cystic hygroma 7 32 0.6734070351758794 0.8714557404830116 |
| Retinal coloboma 8 31 0.8370439445156778 0.7300210830440621 |
| Abnormal cornea morphology 144 491 0.9991419227406664 0.5211041086125632 |
| Microcornea 25 100 0.8009212448039547 0.8581260337548201 |
| Astigmatism 47 161 0.9925535400470616 0.547144558475241 |
| Megalocornea 12 42 0.9629530201342282 0.6016972857464967 |
| Retinopathy 25 81 1.0755212094949202 0.4227107237662618 |
| Keratitis 11 46 0.7558249868212967 0.8345589389258483 |
| Abnormal foveal morphology 2 18 0.3005016722408026 0.9837457247494442 |
| Neck muscle weakness 14 51 0.9106238542101538 0.6679394679173288 |
| Recurrent corneal erosions 1 6 0.4813774657305249 0.8756637428026797 |
| Telecanthus 35 122 0.9682654445519884 0.5976924989621146 |
| Rod cone dystrophy 37 136 0.8986138884616042 0.7384638758822231 |
| Abnormal electroretinogram 31 109 0.9564769352003396 0.6183144775189136 |
| Proptosis 49 196 0.799297768716729 0.925115918196155 |
| Subcapsular cataract 6 26 0.721768251841929 0.8195103866850959 |
| Abnormality iris morphology 70 301 0.7231452097981872 0.993164673396173 |
| Aniridia 9 35 0.8329508238995332 0.7397718642866234 |
| Anophthalmia 8 55 0.4082482459642918 0.996851659209086 |
| Progressive visual loss 19 74 0.8306944317035134 0.7933131318326883 |
| Abnormal chorioretinal morphology 24 112 0.6538838519970596 0.9773928439634252 |
| Chorioretinal atrophy 4 15 0.8753803091152489 0.6838446456385155 |
| Abnormal conjunctiva morphology 25 95 0.8587317636862631 0.7757635427798886 |
| Sparse and thin eyebrow 11 36 1.059630996309963 0.4992096541396956 |
| Limited neck range of motion 0 2 0.0 1.0 |
| Depressed nasal ridge 18 75 0.758892860935122 0.8758016078683035 |
| Abnormal cochlea morphology 2 13 0.4373973852234721 0.9301401965681808 |
| Incomplete partition of the cochlea type ii 1 3 1.2039451688398528 0.6473218534129999 |
| Cupped ear 11 45 0.778163663989581 0.8112816386108553 |
| Stapes ankylosis 0 1 0.0 1.0 |
| Abnormality of periauricular region 21 78 0.8862690215947138 0.7206786409431406 |
| Small earlobe 7 22 1.1239084310441094 0.4786794787334251 |
| Absent earlobe 1 14 0.1849394336856724 0.9923015601562292 |
| Chronic otitis media 25 88 0.9550826284901108 0.6165286697791807 |
| Thickened helices 7 36 0.5801998498238318 0.9371225820839008 |
| Lop ear 1 5 0.6018054162487463 0.8239879431862632 |
| Prominent antihelix 1 12 0.2186255736907692 0.9845631783003476 |
| Anosmia 4 25 0.4578950723529036 0.9615928901875648 |
| Prelingual sensorineural hearing impairment 1 4 0.8025186671124485 0.7508451551458319 |
| Protruding ear 41 145 0.9485050699893126 0.6427250314262093 |
| Epistaxis 13 50 0.8452954465039058 0.7466520325018113 |
| Prominent nasal bridge 44 177 0.793513634833352 0.9218657540764936 |
| Abnormality of the nasal alae 152 513 1.014529280948851 0.4594944625940931 |
| Underdeveloped nasal alae 21 74 0.9536907082933768 0.6160531884772787 |
| Abnormal nasal mucosa morphology 2 24 0.2183642444512009 0.9973941881107524 |
| Depressed nasal tip 4 24 0.4808567603748326 0.9514162494820924 |
| Narrow nasal bridge 2 24 0.2183642444512009 0.9973941881107524 |
| Prominent nose 18 69 0.848886427469441 0.7642483485559805 |
| Choanal stenosis 3 15 0.6015389762462362 0.8618328607283439 |
| Bifid nasal tip 2 8 0.8024526198439242 0.7316356285104274 |
| Recurrent otitis media 23 84 0.9071277517958798 0.6931337875578348 |
| Hypermetropia 47 163 0.9751653884432996 0.5870157534792594 |
| Retinal detachment 10 68 0.4131686671754666 0.9985285836115836 |
| Retinal degeneration 54 190 0.9552116285588436 0.6380493860342067 |
| Dacryocystitis 0 6 0.0 1.0 |
| Blurred vision 4 19 0.6415885765283356 0.8535545886886166 |
| Supranuclear ophthalmoplegia 1 5 0.6018054162487463 0.8239879431862632 |
| Retinal arterial tortuosity 1 10 0.2672833314759092 0.969051322224564 |
| Lacrimation abnormality 16 52 1.070489844683393 0.4624567654022551 |
| Amblyopia 15 64 0.7357427351189048 0.8825469196318858 |
| Sclerocornea 9 35 0.8329508238995332 0.7397718642866234 |
| Decreased light and dark adapted electroretinogram amplitude 3 10 1.031926587965397 0.5996338369181741 |
| Ectropion 10 39 0.8296907884086125 0.7489486706149994 |
| Oculomotor apraxia 24 80 1.0321524836349634 0.4909214759782831 |
| Eyelid apraxia 0 4 0.0 1.0 |
| Miosis 0 7 0.0 1.0 |
| Peters anomaly 2 17 0.3205797101449275 0.9781099893195382 |
| Nyctalopia 28 105 0.8743712427922954 0.7599313943522711 |
| Hypodontia 41 143 0.967375632055601 0.6021468880181488 |
| Anodontia 2 15 0.3700025726781579 0.9606307441557927 |
| Macrodontia of permanent maxillary central incisor 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormality of the incisor 25 92 0.8975597241296047 0.7134441769367313 |
| Oligodontia 10 38 0.8594423684966944 0.7163451728683593 |
| Dental crowding 24 82 0.9962821823589552 0.5479820732668441 |
| Delayed eruption of primary teeth 2 12 0.4812040133779264 0.9075099812904824 |
| Hypoplasia of teeth 18 78 0.7206455951580363 0.9133493323274718 |
| Dental malocclusion 23 99 0.726560422612611 0.9295967922805932 |
| Microdontia 25 92 0.8975597241296047 0.7134441769367313 |
| Lipemia retinalis 0 2 0.0 1.0 |
| Abnormal pupil morphology 11 37 1.018734033494181 0.5415287757310885 |
| Abnormal nasolacrimal system morphology 12 49 0.7800108833665881 0.8163300851440906 |
| Photophobia 35 125 0.9355953857137488 0.6627300987369884 |
| Cone cone rod dystrophy 2 13 0.4373973852234721 0.9301401965681808 |
| Color vision defect 12 48 0.8017897091722596 0.792170947596045 |
| Abnormal uvea morphology 89 373 0.7470174127784274 0.9932224025635106 |
| Uveitis 8 31 0.8370439445156778 0.7300210830440621 |
| Retinal dystrophy 49 220 0.6847788289389234 0.9930415929847208 |
| Buphthalmos 2 17 0.3205797101449275 0.9781099893195382 |
| Rieger anomaly 3 9 1.2040816326530612 0.5196282464541333 |
| Chorioretinal coloboma 6 39 0.4366437313523716 0.986581062838075 |
| Hypometric saccades 3 11 0.9028103044496488 0.6702945765004975 |
| Visual loss 45 156 0.97575179522923 0.5851316417319252 |
| Scotoma 11 40 0.9129660262119864 0.6591261466574873 |
| Centrocecal scotoma 3 11 0.9028103044496488 0.6702945765004975 |
| Nasolacrimal duct obstruction 5 22 0.7076744323440792 0.8188911287130645 |
| Band keratopathy 0 6 0.0 1.0 |
| Optic disc coloboma 4 21 0.56595007480904 0.9043043121411438 |
| Coloboma 44 183 0.758616987007409 0.9548122805380984 |
| Abnormal sclera morphology 26 85 1.0615792541458564 0.4407541301907779 |
| Blue sclerae 20 69 0.9826407009641004 0.5716854218930045 |
| Abnormal anterior chamber morphology 4 22 0.5344340324260003 0.9232850195617416 |
| Shallow anterior chamber 1 5 0.6018054162487463 0.8239879431862632 |
| Central scotoma 8 27 1.0138281360237054 0.5594971156534121 |
| Macular degeneration 13 52 0.8017231733243818 0.7984533570294863 |
| Optic nerve hypoplasia 16 59 0.8953488372093024 0.6931974486096993 |
| Abnormal choroid morphology 24 127 0.5574804385941957 0.9974956438711852 |
| Iris coloboma 31 129 0.7591409410775455 0.9260589078746216 |
| Acute otitis media 0 3 0.0 1.0 |
| Natal tooth 7 22 1.1239084310441094 0.4786794787334251 |
| Tinnitus 12 40 1.0320230105465005 0.5233766293220338 |
| Small forehead 0 6 0.0 1.0 |
| Labial hypertrophy 1 6 0.4813774657305249 0.8756637428026797 |
| Urethral atresia 0 16 0.0 1.0 |
| Abnormality of the ureter 66 253 0.8464074625065338 0.8901539753592986 |
| Ureterocele 4 17 0.7405004633920297 0.7815360505152051 |
| Ureteral stenosis 5 21 0.7520087043856712 0.7833805412598392 |
| Hydroureter 12 54 0.686673058485139 0.9065905350517176 |
| Ureteral duplication 7 35 0.6010050251256281 0.9243121618016044 |
| Ureteropelvic junction obstruction 3 18 0.4810304449648712 0.933024105996546 |
| Renal duplication 8 30 0.8752132585912746 0.6920206151109443 |
| Abnormality of reproductive system physiology 132 470 0.9375512061902594 0.746104943640332 |
| Renal insufficiency 79 263 1.0346796220839116 0.4245988778654224 |
| Hypoplastic labia minora 5 19 0.8596776507723947 0.6966080955472779 |
| Ectopic kidney 16 63 0.8186913749714024 0.7947151721296088 |
| Renal tubular atrophy 4 13 1.0702067529376766 0.5588754825262198 |
| Nephrotic syndrome 23 98 0.7363511844616594 0.92099864734939 |
| Enlarged kidney 7 28 0.8021217197096594 0.7573372587936686 |
| Renal cyst 58 219 0.8647681709831616 0.8450383657415534 |
| Renal corticomedullary cysts 1 5 0.6018054162487463 0.8239879431862632 |
| Renal dysplasia 13 60 0.6645168662909873 0.93041219053715 |
| Nephropathy 19 65 0.9944719870135568 0.5550252221182959 |
| Renal phosphate wasting 1 9 0.3007355399531929 0.9561814898792792 |
| Menorrhagia 2 14 0.400891861761427 0.947457693040818 |
| Female hypogonadism 4 12 1.2041499330655958 0.4872403627234796 |
| Hypogonadism 84 283 1.016810323971992 0.4726159207588344 |
| Nephronophthisis 4 35 0.3097551496307812 0.9969568039454904 |
| Bifid uterus 1 6 0.4813774657305249 0.8756637428026797 |
| Ambiguous genitalia 20 82 0.7751921156601398 0.8677494562933145 |
| Clitoral hypoplasia 5 21 0.7520087043856712 0.7833805412598392 |
| Recurrent urinary tract infections 31 107 0.981922892337226 0.5705432589309269 |
| Neurogenic bladder 6 31 0.5770127260549229 0.9276030862003526 |
| Urinary urgency 8 31 0.8370439445156778 0.7300210830440621 |
| Bladder diverticulum 8 25 1.1334174420438416 0.4592530866816477 |
| Urinary retention 5 21 0.7520087043856712 0.7833805412598392 |
| Nocturia 2 5 1.6055741360089186 0.458274002951101 |
| Megacystis 0 3 0.0 1.0 |
| Abnormality of male internal genitalia 10 40 0.8019226469930695 0.7788895119119675 |
| Prostatitis 0 1 0.0 1.0 |
| Functional abnormality of male internal genitalia 27 125 0.6602952816877172 0.9803581545673594 |
| Male hypogonadism 7 24 0.99140802049463 0.5842864352535018 |
| Ambiguous genitalia female 1 3 1.2039451688398528 0.6473218534129999 |
| Azoospermia 11 58 0.561906257360446 0.9745091303845588 |
| Ambiguous genitalia male 2 6 1.2040133779264215 0.5656089450744413 |
| Hydrocele testis 6 23 0.8494937157716402 0.7085172143039323 |
| Male pseudohermaphroditism 3 26 0.313366401442972 0.9919433614038574 |
| Epispadias 5 21 0.7520087043856712 0.7833805412598392 |
| Long penis 2 8 0.8024526198439242 0.7316356285104274 |
| Hypogonadotropic hypogonadism 24 98 0.779121439498798 0.8807550060060162 |
| Bifid scrotum 6 22 0.9027126590756864 0.6626445438959574 |
| Shawl scrotum 5 16 1.0945917156161549 0.5270800523063662 |
| Abnormality of female external genitalia 35 119 1.0032690790215308 0.5284876571163426 |
| Abnormality of the clitoris 20 75 0.874709409029732 0.7349049247406505 |
| Abnormal labia morphology 17 60 0.9516279069767442 0.6166303227711053 |
| Cryptorchidism 170 584 0.9880100110587277 0.5674262373531228 |
| Abnormality of the ovary 56 192 0.9912646257413048 0.5494333140030327 |
| Ovarian cyst 15 57 0.8592062958875186 0.7380138864918411 |
| Uterine prolapse 1 4 0.8025186671124485 0.7508451551458319 |
| Turricephaly 9 32 0.9419901179145592 0.6259959703187616 |
| Oxycephaly 0 4 0.0 1.0 |
| Dolichocephaly 27 150 0.5242380619421708 0.9995288752186332 |
| Prominent occiput 12 40 1.0320230105465005 0.5233766293220338 |
| Facial grimacing 2 8 0.8024526198439242 0.7316356285104274 |
| Small face 38 140 0.895681495346954 0.7461559369602716 |
| Narrow face 34 120 0.9513499064421278 0.6305693799251898 |
| Broad face 3 13 0.7220475075276012 0.7830437973449951 |
| Broad philtrum 11 35 1.1039360393603936 0.4559545615058867 |
| Full cheeks 32 116 0.9163449163449164 0.695137011279704 |
| Facial hypotonia 10 34 1.0032416722557569 0.5612326577724895 |
| Abnormal paranasal sinus morphology 18 81 0.6860409261216255 0.941007849535108 |
| Mask like facies 9 43 0.6362524895979176 0.920580122361333 |
| Mandibular prognathia 34 137 0.792433880147305 0.8988229308520019 |
| Abnormality of the chin 71 262 0.8924774740057105 0.8093137841685756 |
| Microretrognathia 14 48 0.9913878244380356 0.5653166618279781 |
| Round face 17 80 0.6477097505668934 0.960794435361451 |
| Facial myokymia 1 3 1.2039451688398528 0.6473218534129999 |
| Square face 1 9 0.3007355399531929 0.9561814898792792 |
| Facial hemangioma 5 16 1.0945917156161549 0.5270800523063662 |
| Short chin 9 41 0.6762068387529333 0.8902573628773259 |
| Prominent supraorbital ridges 10 31 1.147040976014819 0.4264187260832318 |
| Broad forehead 37 128 0.9787136721146872 0.5771350796387251 |
| Widow s peak 4 12 1.2041499330655958 0.4872403627234796 |
| Abnormality of facial musculature 69 233 1.0133257678796426 0.4888354520302471 |
| Brachyturricephaly 1 8 0.3437455222811291 0.9379623427931464 |
| Parietal bossing 2 5 1.6055741360089186 0.458274002951101 |
| Hydrocephalus 69 282 0.7747828056260933 0.9722656759669068 |
| Abnormality of the menstrual cycle 47 161 0.9925535400470616 0.547144558475241 |
| Abnormal vagina morphology 17 78 0.6691334894613583 0.948109490243173 |
| Decreased fertility 22 118 0.5484567901234568 0.9972653846900188 |
| Vaginal atresia 2 13 0.4373973852234721 0.9301401965681808 |
| Ovarian gonadoblastoma 2 9 0.6877209746774964 0.7922091662556401 |
| Gonadoblastoma 2 11 0.5347454477889261 0.8781437590361336 |
| Oral ulcer 7 23 1.0535175879396983 0.5326719776995769 |
| Median cleft lip 2 26 0.2001114827201783 0.9986030317314992 |
| Glossoptosis 6 19 1.1114946674223298 0.500937947493563 |
| Abnormality of the gingiva 44 148 1.0189437428243395 0.4900857176765127 |
| Gingival fibromatosis 3 15 0.6015389762462362 0.8618328607283439 |
| Lobulated tongue 1 12 0.2186255736907692 0.9845631783003476 |
| Difficulty in tongue movements 2 7 0.963076923076923 0.6566171786481523 |
| Broad alveolar ridges 2 14 0.400891861761427 0.947457693040818 |
| Narrow palate 42 141 1.0217770929635337 0.4858226650335956 |
| Accessory oral frenulum 3 14 0.6563155813741294 0.8262352177182655 |
| Abnormal parotid gland morphology 2 6 1.2040133779264215 0.5656089450744413 |
| Tongue nodules 2 9 0.6877209746774964 0.7922091662556401 |
| Cleft upper lip 30 124 0.7660867441492953 0.9162216108599636 |
| Pursed lips 0 3 0.0 1.0 |
| Glossitis 2 6 1.2040133779264215 0.5656089450744413 |
| Velopharyngeal insufficiency 5 20 0.8022542126994755 0.7426880917621369 |
| Furrowed tongue 5 29 0.50078116281665 0.9558569099906208 |
| Gingivitis 4 15 0.8753803091152489 0.6838446456385155 |
| Small anterior fontanelle 2 5 1.6055741360089186 0.458274002951101 |
| Abnormality of the inner ear 9 49 0.54036205162588 0.9724770190036504 |
| Delayed eruption of permanent teeth 5 19 0.8596776507723947 0.6966080955472779 |
| Conical tooth 6 32 0.5547426451646144 0.940560165972986 |
| Amelogenesis imperfecta 2 14 0.400891861761427 0.947457693040818 |
| Lenticonus 0 3 0.0 1.0 |
| Orbital cyst 0 3 0.0 1.0 |
| Retinal exudate 0 3 0.0 1.0 |
| Impaired horizontal smooth pursuit 3 8 1.4450986952157912 0.4315618290558272 |
| Saccadic smooth pursuit 4 13 1.0702067529376766 0.5588754825262198 |
| Septate vagina 1 9 0.3007355399531929 0.9561814898792792 |
| Brachydactyly 67 262 0.8233232522463292 0.9247221086688082 |
| Syndactyly 82 309 0.8660914059070197 0.8784625783019995 |
| Hand polydactyly 30 146 0.6188735476961047 0.9940966393430196 |
| Postaxial hand polydactyly 11 78 0.3930715426557251 0.999527857626364 |
| Abnormality of the metacarpal bones 35 144 0.7704467396598959 0.9256941178050836 |
| Severely reduced visual acuity 2 18 0.3005016722408026 0.9837457247494442 |
| Broad palm 6 23 0.8494937157716402 0.7085172143039323 |
| Preaxial hand polydactyly 8 46 0.5055735854381261 0.9789199941061228 |
| Hand oligodactyly 2 7 0.963076923076923 0.6566171786481523 |
| Adducted thumb 24 82 0.9962821823589552 0.5479820732668441 |
| Hyperextensibility of the finger joints 4 15 0.8753803091152489 0.6838446456385155 |
| Hand clenching 6 20 1.031958664242656 0.5583681068930001 |
| Abnormality of the carpal bones 12 56 0.6552776082977425 0.9305010317474603 |
| Abnormalities of placenta or umbilical cord 14 48 0.9913878244380356 0.5653166618279781 |
| Abnormal fingertip morphology 26 86 1.0437401663295125 0.4686315355143693 |
| Delayed ossification of carpal bones 2 8 0.8024526198439242 0.7316356285104274 |
| Clubbing 18 83 0.6647457451761419 0.9549327910322304 |
| Broad metacarpals 1 9 0.3007355399531929 0.9561814898792792 |
| Large hands 10 35 0.9629778672032192 0.6033438962742741 |
| 2 3 finger syndactyly 2 10 0.6016722408026756 0.8403529985689939 |
| Limbal dermoid 0 6 0.0 1.0 |
| Alternating esotropia 2 5 1.6055741360089186 0.458274002951101 |
| Papilledema 18 58 1.0839946200403496 0.4372101476287408 |
| Brushfield spots 3 13 0.7220475075276012 0.7830437973449951 |
| Iris atrophy 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormally large globe 7 31 0.7015633724176438 0.8481020736427258 |
| Absent lacrimal punctum 0 3 0.0 1.0 |
| Optic nerve dysplasia 2 6 1.2040133779264215 0.5656089450744413 |
| Iridocyclitis 1 4 0.8025186671124485 0.7508451551458319 |
| Heterochromia iridis 2 16 0.3435260391782131 0.9705996719890696 |
| Angioid streaks of the fundus 1 7 0.401092165385044 0.9121715035098086 |
| Abnormal macular morphology 23 108 0.6488102549878153 0.977368556278146 |
| Macular hypoplasia 0 8 0.0 1.0 |
| Choroideremia 0 3 0.0 1.0 |
| Retinal atrophy 27 94 0.970018373562206 0.5917007042200413 |
| Leber optic atrophy 1 8 0.3437455222811291 0.9379623427931464 |
| Xanthelasma 1 6 0.4813774657305249 0.8756637428026797 |
| Posterior polar cataract 1 6 0.4813774657305249 0.8756637428026797 |
| Macular coloboma 1 6 0.4813774657305249 0.8756637428026797 |
| Sudden loss of visual acuity 2 5 1.6055741360089186 0.458274002951101 |
| Abnormality of corneal size 37 133 0.927086858432036 0.6824432845077282 |
| Visual field defect 41 138 1.0179565200683327 0.4946408949737481 |
| Cryptophthalmos 0 3 0.0 1.0 |
| Corneal dystrophy 4 15 0.8753803091152489 0.6838446456385155 |
| Lens subluxation 1 10 0.2672833314759092 0.969051322224564 |
| Chorioretinal dystrophy 1 6 0.4813774657305249 0.8756637428026797 |
| Ocular albinism 4 22 0.5344340324260003 0.9232850195617416 |
| Wrist flexion contracture 5 17 1.0032362459546926 0.5884307536605788 |
| Capitate hamate fusion 2 5 1.6055741360089186 0.458274002951101 |
| Small thenar eminence 0 6 0.0 1.0 |
| Abnormality of the foot musculature 2 7 0.963076923076923 0.6566171786481523 |
| Metatarsal synostosis 1 5 0.6018054162487463 0.8239879431862632 |
| Somatic mosaicism 3 13 0.7220475075276012 0.7830437973449951 |
| Y linked inheritance 0 3 0.0 1.0 |
| Aplasia hypoplasia involving the skeletal musculature 8 37 0.6633077563095128 0.8905965477656415 |
| Contiguous gene syndrome 1 5 0.6018054162487463 0.8239879431862632 |
| Aplasia hypoplasia involving the musculature of the upper limbs 2 5 1.6055741360089186 0.458274002951101 |
| Freckling 10 41 0.7759459985720776 0.8061793511413671 |
| Bilateral ptosis 13 42 1.0796842263661723 0.4670336914638366 |
| Broad finger 32 122 0.8545345345345345 0.8041948139160539 |
| Large for gestational age 8 33 0.7698659517426274 0.7960496689507663 |
| Somatic mutation 40 144 0.9250573274963518 0.6909837425991753 |
| Severe failure to thrive 2 11 0.5347454477889261 0.8781437590361336 |
| Mild postnatal growth retardation 2 8 0.8024526198439242 0.7316356285104274 |
| Protuberant abdomen 4 21 0.56595007480904 0.9043043121411438 |
| Omphalocele 12 51 0.7398038203407331 0.8582578855024988 |
| Diastasis recti 4 15 0.8753803091152489 0.6838446456385155 |
| Prominent umbilicus 2 7 0.963076923076923 0.6566171786481523 |
| Anteriorly placed anus 10 35 0.9629778672032192 0.6033438962742741 |
| Abnormal rib cage morphology 71 253 0.9378129573268223 0.6972309099799453 |
| Overgrowth 3 20 0.4243205478912876 0.9596870100427658 |
| Abnormal ileum morphology 12 57 0.6406263982102909 0.9403517013741398 |
| Abnormal umbilicus morphology 58 211 0.9110184405504989 0.7483360787826612 |
| Barrel shaped chest 4 14 0.9630522088353414 0.624675255970463 |
| Hemihypertrophy 1 9 0.3007355399531929 0.9561814898792792 |
| Mitochondrial inheritance 4 15 0.8753803091152489 0.6838446456385155 |
| Heterogeneous 42 138 1.0541525423728813 0.4203204434316545 |
| Micronodular cirrhosis 5 17 1.0032362459546926 0.5884307536605788 |
| Hemiparesis 14 60 0.7315385289222414 0.8803171144778819 |
| Polyneuropathy 16 52 1.070489844683393 0.4624567654022551 |
| Syncope 8 52 0.4362661467219108 0.9939260333885842 |
| Bulbar palsy 10 33 1.0470066777476452 0.5174084723579307 |
| Meningitis 6 30 0.601138647019424 0.9122157934436538 |
| Abnormal cranial nerve morphology 56 191 0.9987486123725906 0.5308414997188358 |
| Cranial nerve compression 10 31 1.147040976014819 0.4264187260832318 |
| Stroke 30 108 0.92531034124552 0.6751455892524736 |
| Giant somatosensory evoked potentials 1 4 0.8025186671124485 0.7508451551458319 |
| Photosensitive myoclonic seizure 0 3 0.0 1.0 |
| Communicating hydrocephalus 5 16 1.0945917156161549 0.5270800523063662 |
| Bimanual synkinesia 2 16 0.3435260391782131 0.9705996719890696 |
| Cerebral hemorrhage 11 46 0.7558249868212967 0.8345589389258483 |
| Psychotic mentation 5 15 1.2042182792099096 0.4619594343599049 |
| Facial diplegia 10 31 1.147040976014819 0.4264187260832318 |
| Slurred speech 8 28 0.9630026809651474 0.6065019306411906 |
| Megalencephaly 2 29 0.1778025517155952 0.99945679911164 |
| Holoprosencephaly 11 54 0.6145198661288939 0.9497995035268192 |
| Calvarial skull defect 7 22 1.1239084310441094 0.4786794787334251 |
| Craniosynostosis 39 146 0.8759759598190974 0.7853858544647503 |
| Rheumatoid arthritis 1 8 0.3437455222811291 0.9379623427931464 |
| Joint swelling 6 20 1.031958664242656 0.5583681068930001 |
| Hepatic fibrosis 29 102 0.956079316131836 0.6176178702050312 |
| Hepatic cysts 3 19 0.4509033121445299 0.9479246404767652 |
| Bile duct proliferation 3 13 0.7220475075276012 0.7830437973449951 |
| Ectopia lentis 5 30 0.4806829594911282 0.9645851332924128 |
| Atrophic scars 7 24 0.99140802049463 0.5842864352535018 |
| Cigarette paper scars 1 7 0.401092165385044 0.9121715035098086 |
| Neurofibromas 4 18 0.6875119525721936 0.8205132217227086 |
| Abnormality of renin angiotensin system 1 9 0.3007355399531929 0.9561814898792792 |
| Increased circulating renin level 1 3 1.2039451688398528 0.6473218534129999 |
| Adrenocortical abnormality 2 12 0.4812040133779264 0.9075099812904824 |
| Congenital hypothyroidism 4 14 0.9630522088353414 0.624675255970463 |
| Pseudohypoparathyroidism 1 6 0.4813774657305249 0.8756637428026797 |
| Goiter 8 31 0.8370439445156778 0.7300210830440621 |
| Thyroid adenoma 4 12 1.2041499330655958 0.4872403627234796 |
| Neonatal insulin dependent diabetes mellitus 3 9 1.2040816326530612 0.5196282464541333 |
| Irregular menstruation 5 23 0.6682661905293308 0.8495505493646256 |
| Hyperaldosteronism 2 5 1.6055741360089186 0.458274002951101 |
| Central diabetes insipidus 2 9 0.6877209746774964 0.7922091662556401 |
| Elevated circulating growth hormone concentration 2 11 0.5347454477889261 0.8781437590361336 |
| Abnormality of the hypothalamus pituitary axis 60 244 0.7807402574292662 0.9593099413165534 |
| Increased circulating prolactin concentration 6 21 0.9630274614869392 0.6124722534016208 |
| Panhypopituitarism 2 15 0.3700025726781579 0.9606307441557927 |
| Hashimoto thyroiditis 2 10 0.6016722408026756 0.8403529985689939 |
| Diabetes insipidus 12 38 1.1117191533298916 0.4409518915741127 |
| Episodic hypertension 1 7 0.401092165385044 0.9121715035098086 |
| Oligomenorrhea 5 27 0.5464588976473811 0.9322710956586476 |
| 11 pairs of ribs 8 33 0.7698659517426274 0.7960496689507663 |
| Prominent sternum 2 7 0.963076923076923 0.6566171786481523 |
| Broad ribs 4 12 1.2041499330655958 0.4872403627234796 |
| Horizontal ribs 1 12 0.2186255736907692 0.9845631783003476 |
| Abnormal clavicle morphology 19 74 0.8306944317035134 0.7933131318326883 |
| Decreased fertility in females 6 37 0.4649439318972408 0.9791090366753886 |
| Hyperparathyroidism 3 16 0.5551895411380189 0.8908482493424653 |
| Hyperactive renin angiotensin system 0 1 0.0 1.0 |
| Pituitary dwarfism 0 2 0.0 1.0 |
| Autism 40 141 0.9529367570903432 0.6323988677962435 |
| Frontal lobe dementia 1 13 0.2003789145213418 0.9890984267926946 |
| Inflexible adherence to routines or rituals 1 2 2.4082246740220663 0.5008051893494083 |
| Self mutilation 9 31 0.984944991314418 0.5827692698138716 |
| Paroxysmal bursts of laughter 2 5 1.6055741360089186 0.458274002951101 |
| Lack of insight 2 9 0.6877209746774964 0.7922091662556401 |
| Impaired use of nonverbal behaviors 1 2 2.4082246740220663 0.5008051893494083 |
| Pectus carinatum 33 113 0.9931226765799256 0.5489973368931306 |
| Abnormality of the ribs 59 204 0.9792985880056904 0.5799803380346067 |
| Short ribs 8 47 0.4925414174743933 0.9827457348742088 |
| Abnormality of the diaphragm 24 81 1.0139026812313805 0.5196417927074369 |
| Nephrolithiasis 20 73 0.9079712537139084 0.6850578631003071 |
| Infertility 10 61 0.47033837008982 0.9936640201068166 |
| Oligospermia 2 11 0.5347454477889261 0.8781437590361336 |
| Renal steatosis 1 7 0.401092165385044 0.9121715035098086 |
| Cystic renal dysplasia 2 7 0.963076923076923 0.6566171786481523 |
| Impotence 7 32 0.6734070351758794 0.8714557404830116 |
| Enuresis 1 10 0.2672833314759092 0.969051322224564 |
| Glandular hypospadias 0 2 0.0 1.0 |
| Penoscrotal hypospadias 0 1 0.0 1.0 |
| Abnormal internal genitalia 111 375 1.012826985579502 0.4760231578158188 |
| Bicornuate uterus 7 41 0.4945314809340821 0.9765230930619142 |
| Abnormality of krebs cycle metabolism 4 14 0.9630522088353414 0.624675255970463 |
| Insulin resistant diabetes mellitus 7 24 0.99140802049463 0.5842864352535018 |
| Increased circulating gonadotropin level 9 33 0.9026148172980222 0.6667162820541698 |
| Cervical ribs 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormality of the amniotic fluid 78 282 0.9184868182001696 0.7555501199543049 |
| Bifid ribs 3 12 0.8023865283818445 0.7313126477609548 |
| Rachitic rosary 0 1 0.0 1.0 |
| Pyoderma 0 2 0.0 1.0 |
| Lymphedema 13 52 0.8017231733243818 0.7984533570294863 |
| Telangiectasia 30 118 0.819010496593211 0.8517879768300654 |
| Hypopigmentation of the skin 46 156 1.0069863605505154 0.5149084106816808 |
| Multiple lipomas 5 25 0.6012721794442585 0.8979888857555822 |
| Anemic pallor 1 7 0.401092165385044 0.9121715035098086 |
| Erythroderma 7 23 1.0535175879396983 0.5326719776995769 |
| Albinism 2 12 0.4812040133779264 0.9075099812904824 |
| Urticaria 10 31 1.147040976014819 0.4264187260832318 |
| Poikiloderma 5 17 1.0032362459546926 0.5884307536605788 |
| Subcutaneous lipoma 0 7 0.0 1.0 |
| Facial capillary hemangioma 2 9 0.6877209746774964 0.7922091662556401 |
| Absent distal interphalangeal creases 0 4 0.0 1.0 |
| Facial erythema 2 7 0.963076923076923 0.6566171786481523 |
| Vitiligo 7 22 1.1239084310441094 0.4786794787334251 |
| Intermittent jaundice 0 3 0.0 1.0 |
| Cavernous hemangioma 4 22 0.5344340324260003 0.9232850195617416 |
| Hypopigmented skin patches 24 94 0.8241047362341163 0.823138721156621 |
| Numerous nevi 1 9 0.3007355399531929 0.9561814898792792 |
| Erysipelas 1 2 2.4082246740220663 0.5008051893494083 |
| Milia 3 13 0.7220475075276012 0.7830437973449951 |
| Aplasia cutis congenita 9 31 0.984944991314418 0.5827692698138716 |
| Axillary pterygium 2 8 0.8024526198439242 0.7316356285104274 |
| Acne 12 38 1.1117191533298916 0.4409518915741127 |
| Parakeratosis 4 14 0.9630522088353414 0.624675255970463 |
| Melanocytic nevus 11 44 0.8018562003801856 0.7856499149590389 |
| Molluscoid pseudotumors 1 3 1.2039451688398528 0.6473218534129999 |
| Xanthomatosis 2 11 0.5347454477889261 0.8781437590361336 |
| Rib fusion 9 31 0.984944991314418 0.5827692698138716 |
| Pectus excavatum of inferior sternum 2 5 1.6055741360089186 0.458274002951101 |
| Broad clavicles 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of the costochondral junction 2 8 0.8024526198439242 0.7316356285104274 |
| Missing ribs 12 43 0.9317601212383632 0.6385266284000376 |
| Posterior rib cupping 0 1 0.0 1.0 |
| Beaded ribs 1 4 0.8025186671124485 0.7508451551458319 |
| Chondrocalcinosis 3 10 1.031926587965397 0.5996338369181741 |
| Thickened cortex of long bones 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal diaphysis morphology 61 211 0.9787194359149324 0.5819337661746892 |
| Abnormality of the metaphysis 45 157 0.9669033884337584 0.605064590299783 |
| Hypoplastic ilia 7 35 0.6010050251256281 0.9243121618016044 |
| Dumbbell shaped long bone 0 3 0.0 1.0 |
| Single transverse palmar crease 39 132 1.009831445331702 0.5128768991367286 |
| Acanthosis nigricans 9 31 0.984944991314418 0.5827692698138716 |
| Cafe au lait spot 40 138 0.9825230905370278 0.5694985266510532 |
| Dry skin 26 102 0.8221599176633424 0.8334305356040999 |
| Hypohidrosis 9 36 0.8019890490557604 0.771897309757236 |
| Petechiae 10 35 0.9629778672032192 0.6033438962742741 |
| Ectodermal dysplasia 2 15 0.3700025726781579 0.9606307441557927 |
| Hyperextensible skin 14 50 0.9360495485411536 0.6352221901350404 |
| Eczematoid dermatitis 1 4 0.8025186671124485 0.7508451551458319 |
| Bruising susceptibility 27 98 0.9148564235327648 0.6885120103205417 |
| Purpura 18 64 0.9418145668255314 0.6314200034133484 |
| Skin rash 18 65 0.9216471833908054 0.6606775792309889 |
| Lateral clavicle hook 3 15 0.6015389762462362 0.8618328607283439 |
| Polydactyly 43 204 0.6378601863143417 0.997240729617957 |
| Protrusio acetabuli 3 10 1.031926587965397 0.5996338369181741 |
| Shallow acetabular fossae 1 7 0.401092165385044 0.9121715035098086 |
| Uncontrolled eye movements 1 4 0.8025186671124485 0.7508451551458319 |
| Hypoplasia of the fovea 1 12 0.2186255736907692 0.9845631783003476 |
| Macular dystrophy 0 8 0.0 1.0 |
| Retinal telangiectasia 4 19 0.6415885765283356 0.8535545886886166 |
| Optic disc hypoplasia 3 16 0.5551895411380189 0.8908482493424653 |
| Peripheral retinal degeneration 0 2 0.0 1.0 |
| Vitreoretinopathy 1 11 0.2405215646940822 0.9781420785502122 |
| Posterior subcapsular cataract 5 19 0.8596776507723947 0.6966080955472779 |
| Granular macular appearance 0 3 0.0 1.0 |
| Optic nerve compression 1 4 0.8025186671124485 0.7508451551458319 |
| Retinal pigment epithelial mottling 2 13 0.4373973852234721 0.9301401965681808 |
| Lacrimal gland hypoplasia 0 2 0.0 1.0 |
| Central heterochromia 1 6 0.4813774657305249 0.8756637428026797 |
| Attenuation of retinal blood vessels 7 28 0.8021217197096594 0.7573372587936686 |
| Punctate opacification of the cornea 0 2 0.0 1.0 |
| Congenital blindness 1 6 0.4813774657305249 0.8756637428026797 |
| Hypopigmentation of the fundus 3 12 0.8023865283818445 0.7313126477609548 |
| Retinal nonattachment 0 2 0.0 1.0 |
| Vitreous hemorrhage 2 11 0.5347454477889261 0.8781437590361336 |
| Tractional retinal detachment 1 4 0.8025186671124485 0.7508451551458319 |
| Slow decrease in visual acuity 7 25 0.9361995160990136 0.6329105152499283 |
| Lacrimal duct aplasia 0 6 0.0 1.0 |
| Peripapillary chorioretinal atrophy 0 2 0.0 1.0 |
| Corneal opacity 51 189 0.8879115355616989 0.7870196710682607 |
| Anterior chamber synechiae 0 10 0.0 1.0 |
| Undetectable visual evoked potentials 2 7 0.963076923076923 0.6566171786481523 |
| Chorioretinal dysplasia 5 21 0.7520087043856712 0.7833805412598392 |
| Retinal pigment epithelial atrophy 4 15 0.8753803091152489 0.6838446456385155 |
| Palmoplantar blistering 1 5 0.6018054162487463 0.8239879431862632 |
| Diffuse palmoplantar hyperkeratosis 0 5 0.0 1.0 |
| Confetti like hypopigmented macules 1 8 0.3437455222811291 0.9379623427931464 |
| Hemangiomatosis 2 16 0.3435260391782131 0.9705996719890696 |
| Linear arrays of macular hyperkeratoses in flexural areas 0 1 0.0 1.0 |
| Recurrent staphylococcal infections 2 9 0.6877209746774964 0.7922091662556401 |
| Edema of the dorsum of hands 2 7 0.963076923076923 0.6566171786481523 |
| Palmoplantar cutis laxa 2 7 0.963076923076923 0.6566171786481523 |
| Epidermal hyperkeratosis 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal subcutaneous fat tissue distribution 3 8 1.4450986952157912 0.4315618290558272 |
| Multiple cafe au lait spots 11 53 0.6292391495343524 0.9409976766020616 |
| Iris hypopigmentation 5 35 0.4002901461890414 0.9888468984293666 |
| Numerous pigmented freckles 3 9 1.2040816326530612 0.5196282464541333 |
| Bilateral single transverse palmar creases 13 46 0.948284455837326 0.6191779975510289 |
| Excessive wrinkling of palmar skin 2 8 0.8024526198439242 0.7316356285104274 |
| Bilateral microphthalmos 5 17 1.0032362459546926 0.5884307536605788 |
| Congenital stationary night blindness 1 4 0.8025186671124485 0.7508451551458319 |
| Ectropion of lower eyelids 1 5 0.6018054162487463 0.8239879431862632 |
| Hypoplasia of the iris 4 28 0.4004908522980812 0.9814592752917354 |
| Lacrimal duct stenosis 3 11 0.9028103044496488 0.6702945765004975 |
| Peripheral retinal avascularization 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal pupillary function 4 31 0.3558431255887748 0.99131297244778 |
| Abnormal pupillary light reflex 3 12 0.8023865283818445 0.7313126477609548 |
| Uveal melanoma 1 9 0.3007355399531929 0.9561814898792792 |
| Aplasia cutis congenita on trunk or limbs 1 5 0.6018054162487463 0.8239879431862632 |
| Remnants of the hyaloid vascular system 0 4 0.0 1.0 |
| Congenital ptosis 1 4 0.8025186671124485 0.7508451551458319 |
| Gaze evoked horizontal nystagmus 0 5 0.0 1.0 |
| Thyroid dysgenesis 0 4 0.0 1.0 |
| Thyroid agenesis 0 2 0.0 1.0 |
| Primary hyperparathyroidism 2 9 0.6877209746774964 0.7922091662556401 |
| Reduced circulating prolactin concentration 3 16 0.5551895411380189 0.8908482493424653 |
| Primary adrenal insufficiency 12 41 0.9962971534367044 0.5632219730786405 |
| Parathyroid hyperplasia 0 8 0.0 1.0 |
| Gonadotropin deficiency 0 3 0.0 1.0 |
| Adrenal hyperplasia 4 13 1.0702067529376766 0.5588754825262198 |
| Female infertility 2 20 0.2670382757339279 0.9911014099285992 |
| Compensated hypothyroidism 0 1 0.0 1.0 |
| Elevated circulating follicle stimulating hormone level 3 21 0.4006914241106278 0.9689174597054394 |
| Absence of secondary sex characteristics 4 20 0.6014056224899599 0.8812712129159418 |
| Hypothalamic hypothyroidism 2 11 0.5347454477889261 0.8781437590361336 |
| Pituitary hypothyroidism 5 23 0.6682661905293308 0.8495505493646256 |
| Transient neonatal diabetes mellitus 1 5 0.6018054162487463 0.8239879431862632 |
| Adrenocortical adenoma 0 4 0.0 1.0 |
| Pancreatic islet cell adenoma 0 6 0.0 1.0 |
| Abnormal light adapted electroretinogram 0 3 0.0 1.0 |
| Abnormal blood zinc concentration 1 2 2.4082246740220663 0.5008051893494083 |
| Impaired collagen induced platelet aggregation 2 6 1.2040133779264215 0.5656089450744413 |
| Distal renal tubular acidosis 0 3 0.0 1.0 |
| Aplasia hypoplasia of the hallux 19 61 1.089792257299825 0.4255795696000492 |
| Abnormality of the calcaneus 6 22 0.9027126590756864 0.6626445438959574 |
| Tarsal synostosis 3 16 0.5551895411380189 0.8908482493424653 |
| Secondary growth hormone deficiency 3 15 0.6015389762462362 0.8618328607283439 |
| Very long chain fatty acid accumulation 5 17 1.0032362459546926 0.5884307536605788 |
| Decreased circulating cortisol level 7 22 1.1239084310441094 0.4786794787334251 |
| Periodic hypokalemic paresis 0 1 0.0 1.0 |
| Hypoplastic iris stroma 0 8 0.0 1.0 |
| Peripheral visual field loss 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormality of macular pigmentation 3 16 0.5551895411380189 0.8908482493424653 |
| Jerky ocular pursuit movements 1 4 0.8025186671124485 0.7508451551458319 |
| Primary congenital glaucoma 1 2 2.4082246740220663 0.5008051893494083 |
| Peripheral opacification of the cornea 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal iris pigmentation 18 85 0.6447219183169559 0.965909596349826 |
| Aplastic hypoplastic lacrimal glands 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormality of the vasculature of the eye 68 228 1.0238372093023256 0.4613924355415955 |
| Abnormality of the extraocular muscles 2 6 1.2040133779264215 0.5656089450744413 |
| Retinal fold 2 5 1.6055741360089186 0.458274002951101 |
| Abnormal morphology of the conjunctival vasculature 6 19 1.1114946674223298 0.500937947493563 |
| Aplasia hypoplasia affecting the eye 85 337 0.8066462452427364 0.9615358692416864 |
| Aplasia hypoplasia affecting the fundus 20 93 0.6573683143125795 0.965884008605176 |
| Aplasia hypoplasia of the optic nerve 19 72 0.8622825555788258 0.749430303766293 |
| Aplasia hypoplasia of the retina 1 24 0.1043856206300059 0.9997631020187048 |
| Aplasia hypoplasia affecting the anterior segment of the eye 22 111 0.5921764461090304 0.991778721351614 |
| Aplasia hypoplasia of the lens 0 8 0.0 1.0 |
| Neoplasm of the skin 36 137 0.8564825359396562 0.8120876721704527 |
| Maternal hypertension 1 3 1.2039451688398528 0.6473218534129999 |
| Progressive pes cavus 3 8 1.4450986952157912 0.4315618290558272 |
| Pes valgus 7 30 0.7321680868108659 0.8214386241493598 |
| Abnormality of the fifth metatarsal bone 1 5 0.6018054162487463 0.8239879431862632 |
| Deformed tarsal bones 1 7 0.401092165385044 0.9121715035098086 |
| Impaired epinephrine induced platelet aggregation 1 2 2.4082246740220663 0.5008051893494083 |
| Partial albinism 1 6 0.4813774657305249 0.8756637428026797 |
| Abnormal tarsal ossification 0 6 0.0 1.0 |
| Generalized edema 3 13 0.7220475075276012 0.7830437973449951 |
| Spontaneous hematomas 0 9 0.0 1.0 |
| Follicular thyroid carcinoma 3 11 0.9028103044496488 0.6702945765004975 |
| Adrenocortical carcinoma 3 13 0.7220475075276012 0.7830437973449951 |
| Ganglioneuroblastoma 0 1 0.0 1.0 |
| Neoplasm of the stomach 18 64 0.9418145668255314 0.6314200034133484 |
| Pituitary prolactin cell adenoma 2 9 0.6877209746774964 0.7922091662556401 |
| Duodenal adenocarcinoma 1 6 0.4813774657305249 0.8756637428026797 |
| Renal angiomyolipoma 0 4 0.0 1.0 |
| Ovarian papillary adenocarcinoma 1 6 0.4813774657305249 0.8756637428026797 |
| Multiple myeloma 1 7 0.401092165385044 0.9121715035098086 |
| Alveolar rhabdomyosarcoma 1 4 0.8025186671124485 0.7508451551458319 |
| Parathyroid carcinoma 1 6 0.4813774657305249 0.8756637428026797 |
| Pancreatic adenocarcinoma 8 27 1.0138281360237054 0.5594971156534121 |
| Posterior pharyngeal cleft 2 8 0.8024526198439242 0.7316356285104274 |
| Severe muscular hypotonia 26 92 0.9480577862236662 0.6293872668329079 |
| Hypoplasia of the ventral pons 1 6 0.4813774657305249 0.8756637428026797 |
| Severe expressive language delay 2 11 0.5347454477889261 0.8781437590361336 |
| Lobar holoprosencephaly 0 15 0.0 1.0 |
| Impaired distal vibration sensation 5 17 1.0032362459546926 0.5884307536605788 |
| Intellectual disability progressive 11 42 0.8538269253660279 0.7271468480767735 |
| Meningoencephalocele 0 5 0.0 1.0 |
| Intellectual disability borderline 2 9 0.6877209746774964 0.7922091662556401 |
| Frontotemporal cerebral atrophy 3 12 0.8023865283818445 0.7313126477609548 |
| Fusion of the cerebellar hemispheres 1 6 0.4813774657305249 0.8756637428026797 |
| Impaired distal tactile sensation 2 10 0.6016722408026756 0.8403529985689939 |
| Focal hemiclonic seizure 0 4 0.0 1.0 |
| Impaired vibration sensation at ankles 1 6 0.4813774657305249 0.8756637428026797 |
| Intestinal carcinoid 0 6 0.0 1.0 |
| Aplasia hypoplasia of the sternum 4 14 0.9630522088353414 0.624675255970463 |
| Recurrent intrapulmonary hemorrhage 0 2 0.0 1.0 |
| Airway obstruction 14 58 0.7650039684962452 0.8459563391040799 |
| Cardiorespiratory arrest 3 8 1.4450986952157912 0.4315618290558272 |
| Unilateral primary pulmonary dysgenesis 2 5 1.6055741360089186 0.458274002951101 |
| Viral hepatitis 4 12 1.2041499330655958 0.4872403627234796 |
| Wide intermamillary distance 20 87 0.716839758140656 0.9258590951890028 |
| Absent sternal ossification 1 6 0.4813774657305249 0.8756637428026797 |
| Multiple rib fractures 1 4 0.8025186671124485 0.7508451551458319 |
| Thoracic dysplasia 0 6 0.0 1.0 |
| Exanthem 1 10 0.2672833314759092 0.969051322224564 |
| Aplastic clavicle 3 14 0.6563155813741294 0.8262352177182655 |
| Hereditary nonpolyposis colorectal carcinoma 7 27 0.8423450586264657 0.7196284267594591 |
| Endocardial fibrosis 1 2 2.4082246740220663 0.5008051893494083 |
| Atrioventricular canal defect 9 34 0.8663895407308079 0.7046903868020313 |
| Dilatation of the ventricular cavity 2 5 1.6055741360089186 0.458274002951101 |
| Premature atrial contractions 0 2 0.0 1.0 |
| Aplasia hypoplasia of the lungs 31 105 1.008744306616647 0.5209858326822338 |
| Abnormal coronary artery morphology 5 38 0.3637479583244565 0.9946252430735976 |
| Abnormal atrioventricular valve morphology 33 119 0.923056972421544 0.6841808118282469 |
| Cystic liver disease 4 32 0.3430866322432587 0.993291517373001 |
| Abnormality of the hepatic vasculature 11 44 0.8018562003801856 0.7856499149590389 |
| Aplasia hypoplasia involving bones of the thorax 33 129 0.8257434944237918 0.8516391281397276 |
| Aplasia hypoplasia of the ribs 21 89 0.7417585681192705 0.9077320693625373 |
| Aplasia hypoplasia of the scapulae 3 18 0.4810304449648712 0.933024105996546 |
| Bacterial endocarditis 2 6 1.2040133779264215 0.5656089450744413 |
| Retrocerebellar cyst 0 5 0.0 1.0 |
| Olivopontocerebellar hypoplasia 4 13 1.0702067529376766 0.5588754825262198 |
| Dilation of lateral ventricles 21 72 0.991367533213218 0.5579033895949799 |
| Macrogyria 5 22 0.7076744323440792 0.8188911287130645 |
| Severe demyelination of the white matter 2 7 0.963076923076923 0.6566171786481523 |
| Type ii lissencephaly 2 15 0.3700025726781579 0.9606307441557927 |
| Chronic axonal neuropathy 2 5 1.6055741360089186 0.458274002951101 |
| Atypical absence seizure 3 11 0.9028103044496488 0.6702945765004975 |
| Posterior fossa cyst 2 11 0.5347454477889261 0.8781437590361336 |
| Oromotor apraxia 5 15 1.2042182792099096 0.4619594343599049 |
| Short stepped shuffling gait 2 12 0.4812040133779264 0.9075099812904824 |
| Generalized dystonia 3 11 0.9028103044496488 0.6702945765004975 |
| Hypoplasia of the frontal lobes 9 30 1.0319908050380728 0.537377176470804 |
| Bilateral tonic clonic seizure with focal onset 2 11 0.5347454477889261 0.8781437590361336 |
| Facial paralysis 1 3 1.2039451688398528 0.6473218534129999 |
| Hypermetric saccades 2 8 0.8024526198439242 0.7316356285104274 |
| Cerebellar calcifications 0 5 0.0 1.0 |
| Atrophy degeneration involving the corticospinal tracts 11 37 1.018734033494181 0.5415287757310885 |
| Atrophy degeneration involving the caudate nucleus 4 12 1.2041499330655958 0.4872403627234796 |
| Abnormality of somatosensory evoked potentials 3 12 0.8023865283818445 0.7313126477609548 |
| Facial telangiectasia 3 9 1.2040816326530612 0.5196282464541333 |
| Congenital localized absence of skin 2 5 1.6055741360089186 0.458274002951101 |
| Excessive wrinkled skin 9 28 1.1409390052402208 0.4419850781713734 |
| Irregular hyperpigmentation 61 206 1.013186037482794 0.492856319776097 |
| Macular atrophy 7 22 1.1239084310441094 0.4786794787334251 |
| Palmoplantar hyperhidrosis 1 4 0.8025186671124485 0.7508451551458319 |
| Discoid lupus rash 0 4 0.0 1.0 |
| Abnormal morphology of the limbic system 11 49 0.695863274422218 0.8912279329301667 |
| Photosensitive tonic clonic seizure 0 8 0.0 1.0 |
| Hemimegalencephaly 1 13 0.2003789145213418 0.9890984267926946 |
| Progressive spastic paraparesis 1 5 0.6018054162487463 0.8239879431862632 |
| Jerky head movements 3 8 1.4450986952157912 0.4315618290558272 |
| Grammar specific speech disorder 2 9 0.6877209746774964 0.7922091662556401 |
| Sleep wake cycle disturbance 5 19 0.8596776507723947 0.6966080955472779 |
| Morning myoclonic jerks 2 8 0.8024526198439242 0.7316356285104274 |
| Loss of purkinje cells in the cerebellar vermis 1 4 0.8025186671124485 0.7508451551458319 |
| Poor fine motor coordination 7 30 0.7321680868108659 0.8214386241493598 |
| Poor gross motor coordination 3 10 1.031926587965397 0.5996338369181741 |
| Corticospinal tract hypoplasia 2 5 1.6055741360089186 0.458274002951101 |
| Pain insensitivity 3 14 0.6563155813741294 0.8262352177182655 |
| Cerebral berry aneurysm 0 2 0.0 1.0 |
| Cerebellar dysplasia 4 19 0.6415885765283356 0.8535545886886166 |
| Hypoplasia of olfactory tract 1 8 0.3437455222811291 0.9379623427931464 |
| Chronic lymphocytic meningitis 0 4 0.0 1.0 |
| Generalized cerebral atrophy hypoplasia 0 3 0.0 1.0 |
| Inferior vermis hypoplasia 2 5 1.6055741360089186 0.458274002951101 |
| Thick corpus callosum 2 9 0.6877209746774964 0.7922091662556401 |
| Dilated third ventricle 2 10 0.6016722408026756 0.8403529985689939 |
| Social and occupational deterioration 2 7 0.963076923076923 0.6566171786481523 |
| Arnold chiari type i malformation 4 25 0.4578950723529036 0.9615928901875648 |
| Infantile encephalopathy 1 8 0.3437455222811291 0.9379623427931464 |
| Temporal cortical atrophy 4 15 0.8753803091152489 0.6838446456385155 |
| Slowed slurred speech 0 5 0.0 1.0 |
| Periventricular heterotopia 10 32 1.094750320102433 0.4723010351743333 |
| Paroxysmal dyskinesia 1 6 0.4813774657305249 0.8756637428026797 |
| Loss of consciousness 3 17 0.515461453902404 0.9142722919386124 |
| Reticulated skin pigmentation 2 5 1.6055741360089186 0.458274002951101 |
| Subungual hyperkeratosis 0 1 0.0 1.0 |
| Onychogryposis of toenails 1 2 2.4082246740220663 0.5008051893494083 |
| Ridged fingernail 0 7 0.0 1.0 |
| Teratoma 3 11 0.9028103044496488 0.6702945765004975 |
| Supernumerary spleens 7 49 0.3998883305415969 0.995885220921662 |
| Maternal diabetes 1 20 0.1264319273610304 0.9990460817539482 |
| Aplasia of the phalanges of the hand 2 10 0.6016722408026756 0.8403529985689939 |
| Nephrogenic diabetes insipidus 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of upper limb metaphysis 2 8 0.8024526198439242 0.7316356285104274 |
| Abnormality of upper limb joint 105 353 1.0201179927818809 0.4537875374930156 |
| Lower limb undergrowth 2 10 0.6016722408026756 0.8403529985689939 |
| Aplasia involving bones of the lower limbs 2 8 0.8024526198439242 0.7316356285104274 |
| Upper limb undergrowth 17 71 0.7566137566137566 0.8728598145597574 |
| Aplasia involving bones of the extremities 3 14 0.6563155813741294 0.8262352177182655 |
| Perianal abscess 1 5 0.6018054162487463 0.8239879431862632 |
| Limb undergrowth 46 182 0.8114891577812388 0.904455525052616 |
| Abnormal proximal phalanx morphology of the hand 4 19 0.6415885765283356 0.8535545886886166 |
| Aplasia hypoplasia of the distal phalanges of the hand 29 102 0.956079316131836 0.6176178702050312 |
| Broad distal phalanx of finger 6 20 1.031958664242656 0.5583681068930001 |
| Aplasia hypoplasia of the proximal phalanges of the hand 2 9 0.6877209746774964 0.7922091662556401 |
| Duplication of the distal phalanx of hand 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormality of hair pigmentation 20 74 0.8910323513284483 0.7106151500055079 |
| Abnormality of secondary sexual hair 8 30 0.8752132585912746 0.6920206151109443 |
| Underdeveloped supraorbital ridges 10 46 0.6677099634846114 0.9060643457469733 |
| Thickened ears 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of the crus of the helix 2 8 0.8024526198439242 0.7316356285104274 |
| Abnormality of the antitragus 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormal middle phalanx morphology of the hand 7 40 0.5095883457692503 0.9712042998591276 |
| Prominent crus of helix 1 4 0.8025186671124485 0.7508451551458319 |
| Amniotic constriction ring 1 4 0.8025186671124485 0.7508451551458319 |
| Aplasia hypoplasia of the phalanges of the hand 48 168 0.9625 0.6167317271719879 |
| Abnormality of the distal phalanx of the thumb 3 21 0.4006914241106278 0.9689174597054394 |
| Abnormality of the proximal phalanx of the thumb 2 6 1.2040133779264215 0.5656089450744413 |
| Aplasia hypoplasia of the proximal phalanx of the thumb 0 2 0.0 1.0 |
| Aplasia hypoplasia of the distal phalanx of the thumb 1 8 0.3437455222811291 0.9379623427931464 |
| Aplasia hypoplasia of the phalanges of the thumb 9 28 1.1409390052402208 0.4419850781713734 |
| Partial absence of thumb 1 7 0.401092165385044 0.9121715035098086 |
| Carpal synostosis 7 26 0.8868024332187252 0.6781129016609558 |
| Abnormality of the epididymis 2 7 0.963076923076923 0.6566171786481523 |
| Papillary cystadenoma of the epididymis 0 4 0.0 1.0 |
| Hypomelanotic macule 1 5 0.6018054162487463 0.8239879431862632 |
| Adenoma sebaceum 4 17 0.7405004633920297 0.7815360505152051 |
| Symphalangism affecting the phalanges of the hand 3 8 1.4450986952157912 0.4315618290558272 |
| Shagreen patch 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormality of the subungual region 1 4 0.8025186671124485 0.7508451551458319 |
| Bladder neoplasm 6 29 0.6273624741547511 0.894060359590428 |
| Neoplasm of striated muscle 7 24 0.99140802049463 0.5842864352535018 |
| Cardiac rhabdomyoma 0 4 0.0 1.0 |
| Cerebral hamartoma 3 14 0.6563155813741294 0.8262352177182655 |
| Glioma 12 44 0.90251677852349 0.6734904494982609 |
| Abnormality of the antihelix 10 37 0.8913977693320416 0.6811239545646374 |
| Large earlobe 7 21 1.204355108877722 0.4231077406436607 |
| Aplasia of the pectoralis major muscle 0 3 0.0 1.0 |
| Popliteal pterygium 1 6 0.4813774657305249 0.8756637428026797 |
| Limb pain 9 30 1.0319908050380728 0.537377176470804 |
| Dental enamel pits 0 2 0.0 1.0 |
| Aplasia hypoplasia of the earlobes 8 40 0.6008713136729222 0.9346164446575472 |
| Uplifted earlobe 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormal temporal bone morphology 1 3 1.2039451688398528 0.6473218534129999 |
| Aplasia hypoplasia of the distal phalanges of the toes 0 8 0.0 1.0 |
| Aplasia hypoplasia of the middle phalanges of the toes 0 3 0.0 1.0 |
| Cone shaped epiphyses of the phalanges of the hand 6 22 0.9027126590756864 0.6626445438959574 |
| Ivory epiphyses of the phalanges of the hand 0 6 0.0 1.0 |
| Aplasia of the middle phalanx of the hand 1 5 0.6018054162487463 0.8239879431862632 |
| Short proximal phalanx of finger 1 4 0.8025186671124485 0.7508451551458319 |
| Aplasia of the proximal phalanges of the hand 1 5 0.6018054162487463 0.8239879431862632 |
| Thin lower lip vermilion 2 5 1.6055741360089186 0.458274002951101 |
| Aplasia hypoplasia of the uvula 5 26 0.5725604604077988 0.9166742426731276 |
| Palate fistula 0 6 0.0 1.0 |
| Aplasia hypoplasia of the tongue 4 26 0.4370208105147864 0.9697599170039232 |
| Abnormality of the middle phalanges of the toes 0 7 0.0 1.0 |
| Bifid tongue 4 22 0.5344340324260003 0.9232850195617416 |
| Abnormal spinal meningeal morphology 1 16 0.1602362643486013 0.9961613672451204 |
| Absence of the sacrum 1 4 0.8025186671124485 0.7508451551458319 |
| Short thorax 3 29 0.277092930488715 0.9965295982974371 |
| Stridor 5 19 0.8596776507723947 0.6966080955472779 |
| Chylothorax 4 12 1.2041499330655958 0.4872403627234796 |
| Aplasia hypoplasia of the breasts 7 38 0.5426163073431675 0.957128702483415 |
| Premature thelarche 1 8 0.3437455222811291 0.9379623427931464 |
| Aplasia hypoplasia of the abdominal wall musculature 4 27 0.4179617018799837 0.9762797120159576 |
| Abnormality of the 2nd toe 8 29 0.917017745435976 0.6507823648111599 |
| Abnormality of the 3rd toe 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of the 5th toe 8 58 0.3835924932975871 0.9984008935722174 |
| Spinal cord tumor 1 15 0.1717055929693843 0.9945637612889204 |
| Abnormality of the distal phalanges of the toes 4 15 0.8753803091152489 0.6838446456385155 |
| Broad phalanx of the toes 5 33 0.429001865225501 0.9821163592189732 |
| Aplasia hypoplasia of the phalanges of the toes 2 13 0.4373973852234721 0.9301401965681808 |
| Abnormality of the tragus 3 9 1.2040816326530612 0.5196282464541333 |
| Cyclopia 2 12 0.4812040133779264 0.9075099812904824 |
| Persistent pupillary membrane 0 2 0.0 1.0 |
| Ectopia pupillae 4 14 0.9630522088353414 0.624675255970463 |
| Aplasia hypoplasia involving the nose 26 88 1.0097883540338894 0.5239404583117983 |
| Epiphora 2 12 0.4812040133779264 0.9075099812904824 |
| Abnormality of the columella 15 52 0.9759961506686398 0.5837409096921417 |
| Single naris 3 11 0.9028103044496488 0.6702945765004975 |
| Aplasia hypoplasia of the nasal septum 1 2 2.4082246740220663 0.5008051893494083 |
| Complete duplication of phalanx of hand 4 12 1.2041499330655958 0.4872403627234796 |
| Partial duplication of the distal phalanges of the hand 0 4 0.0 1.0 |
| Abnormality of the 2nd metacarpal 0 2 0.0 1.0 |
| Abnormality of the 4th metacarpal 3 12 0.8023865283818445 0.7313126477609548 |
| Abnormality of the 5th metacarpal 2 12 0.4812040133779264 0.9075099812904824 |
| Aplasia hypoplasia of the 2nd metacarpal 0 1 0.0 1.0 |
| Aplasia hypoplasia of the 4th metacarpal 3 10 1.031926587965397 0.5996338369181741 |
| Aplasia hypoplasia of the 5th metacarpal 2 7 0.963076923076923 0.6566171786481523 |
| Aplasia of metacarpal bones 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormality of the distal phalanx of the hallux 0 4 0.0 1.0 |
| Abnormality of the first metatarsal bone 0 7 0.0 1.0 |
| Abnormality of the phalanges of the hallux 1 30 0.0827194226357232 0.9999707178499504 |
| Aplasia hypoplasia of the phalanges of the hallux 0 3 0.0 1.0 |
| Broad hallux phalanx 1 17 0.1502006018054162 0.9972895783561956 |
| Duplication of phalanx of hallux 0 10 0.0 1.0 |
| Abnormality of the phalanges of the toes 14 89 0.4468591896127155 0.9990998605748675 |
| Duplication of the distal phalanx of the thumb 0 4 0.0 1.0 |
| Retinal hamartoma 6 21 0.9630274614869392 0.6124722534016208 |
| Abnormality of the vestibulocochlear nerve 2 6 1.2040133779264215 0.5656089450744413 |
| Short middle phalanx of the 2nd finger 0 2 0.0 1.0 |
| Aplasia hypoplasia of the fallopian tube 0 1 0.0 1.0 |
| Abnormal spermatogenesis 12 67 0.5234167175106772 0.9890080582571668 |
| Renal tubular epithelial necrosis 1 3 1.2039451688398528 0.6473218534129999 |
| Renal hamartoma 1 6 0.4813774657305249 0.8756637428026797 |
| Testicular dysgenesis 1 8 0.3437455222811291 0.9379623427931464 |
| Urethrovaginal fistula 1 6 0.4813774657305249 0.8756637428026797 |
| Urethral diverticulum 0 2 0.0 1.0 |
| Hypoplasia of the vagina 2 12 0.4812040133779264 0.9075099812904824 |
| Female external genitalia in individual with 46 xy karyotype 2 10 0.6016722408026756 0.8403529985689939 |
| Decreased testicular size 19 79 0.7609373248121987 0.8787130424689429 |
| Hypoplasia of penis 100 336 1.0209344304569004 0.4532181727834393 |
| Abnormality of the stapes 2 5 1.6055741360089186 0.458274002951101 |
| Laryngeal hypoplasia 1 5 0.6018054162487463 0.8239879431862632 |
| No social interaction 1 5 0.6018054162487463 0.8239879431862632 |
| Auditory hallucinations 2 10 0.6016722408026756 0.8403529985689939 |
| Inappropriate sexual behavior 0 6 0.0 1.0 |
| Aplasia hypoplasia of the inner ear 0 4 0.0 1.0 |
| Abnormal prostate morphology 7 31 0.7015633724176438 0.8481020736427258 |
| Congenital bilateral hip dislocation 2 7 0.963076923076923 0.6566171786481523 |
| Hypoplasia of the femoral head 1 4 0.8025186671124485 0.7508451551458319 |
| Flattened femoral head 1 4 0.8025186671124485 0.7508451551458319 |
| Large iliac wing 1 4 0.8025186671124485 0.7508451551458319 |
| Delayed proximal femoral epiphyseal ossification 1 3 1.2039451688398528 0.6473218534129999 |
| Irregular acetabular roof 1 2 2.4082246740220663 0.5008051893494083 |
| Repetitive compulsive behavior 3 11 0.9028103044496488 0.6702945765004975 |
| Adult onset sensorineural hearing impairment 0 4 0.0 1.0 |
| Morphological abnormality of the middle ear 5 18 0.9259354639334552 0.6451159513320872 |
| Prominent antitragus 2 5 1.6055741360089186 0.458274002951101 |
| Vertebral wedging 2 10 0.6016722408026756 0.8403529985689939 |
| Vertebral clefting 7 23 1.0535175879396983 0.5326719776995769 |
| Hypoplastic cervical vertebrae 1 4 0.8025186671124485 0.7508451551458319 |
| Vertebral arch anomaly 3 11 0.9028103044496488 0.6702945765004975 |
| C1 c2 vertebral abnormality 0 5 0.0 1.0 |
| Spinal deformities 4 17 0.7405004633920297 0.7815360505152051 |
| Cervical spinal canal stenosis 2 8 0.8024526198439242 0.7316356285104274 |
| Narrow vertebral interpedicular distance 3 8 1.4450986952157912 0.4315618290558272 |
| Lumbar kyphosis 2 6 1.2040133779264215 0.5656089450744413 |
| Asymmetry of spinal facet joints 1 3 1.2039451688398528 0.6473218534129999 |
| Inferior lens subluxation 1 6 0.4813774657305249 0.8756637428026797 |
| Congenital craniofacial dysostosis 2 5 1.6055741360089186 0.458274002951101 |
| High hypermetropia 10 44 0.7071842821635697 0.8729112357752551 |
| Median cleft lip and palate 0 11 0.0 1.0 |
| Moderate sensorineural hearing impairment 7 25 0.9361995160990136 0.6329105152499283 |
| Aplasia hypoplasia of the sacrum 3 9 1.2040816326530612 0.5196282464541333 |
| Abnormal coccyx morphology 0 2 0.0 1.0 |
| Posterior helix pit 0 4 0.0 1.0 |
| Congenital sensorineural hearing impairment 5 18 0.9259354639334552 0.6451159513320872 |
| Abnormally folded helix 17 60 0.9516279069767442 0.6166303227711053 |
| Cochlear malformation 2 5 1.6055741360089186 0.458274002951101 |
| External ear malformation 14 75 0.5504959869645157 0.9877504197243306 |
| Underfolded helix 0 5 0.0 1.0 |
| Hypoplasia of the cochlea 0 3 0.0 1.0 |
| Hypoplastic helices 2 8 0.8024526198439242 0.7316356285104274 |
| Hypoplastic pelvis 1 11 0.2405215646940822 0.9781420785502122 |
| Pulmonary lymphangiectasia 0 1 0.0 1.0 |
| Hip osteoarthritis 2 6 1.2040133779264215 0.5656089450744413 |
| Disproportionate short limb short stature 17 68 0.8014565826330532 0.821331902288539 |
| Aplasia hypoplasia involving the sinuses 4 12 1.2041499330655958 0.4872403627234796 |
| Mixed hypo and hyperpigmentation of the skin 4 12 1.2041499330655958 0.4872403627234796 |
| Duplication involving bones of the feet 18 103 0.5069108746390284 0.9981250677147484 |
| Synostosis involving bones of the lower limbs 3 19 0.4509033121445299 0.9479246404767652 |
| Supernumerary bones of the axial skeleton 5 20 0.8022542126994755 0.7426880917621369 |
| Abnormal cerebral artery morphology 14 49 0.9629281396910678 0.6009528499718345 |
| Abnormal calcification of the carpal bones 0 2 0.0 1.0 |
| Joint contracture of the 5th finger 0 10 0.0 1.0 |
| Deviation of the 4th finger 0 3 0.0 1.0 |
| Abnormal 3rd finger phalanx morphology 0 5 0.0 1.0 |
| Deviation of the 3rd finger 1 5 0.6018054162487463 0.8239879431862632 |
| Diaphragmatic eventration 2 10 0.6016722408026756 0.8403529985689939 |
| Ulnar deviation of the 2nd finger 1 3 1.2039451688398528 0.6473218534129999 |
| Radial deviation of the 2nd finger 1 3 1.2039451688398528 0.6473218534129999 |
| Deviation of the 2nd finger 3 12 0.8023865283818445 0.7313126477609548 |
| Joint contracture of the hand 44 177 0.793513634833352 0.9218657540764936 |
| Deviation of the hand or of fingers of the hand 97 352 0.9130725727251175 0.7900712830382693 |
| Radial deviation of the hand or of fingers of the hand 9 45 0.600737512571237 0.9434173720287172 |
| Radial deviation of the hand 1 7 0.401092165385044 0.9121715035098086 |
| Ulnar deviation of the hand 4 14 0.9630522088353414 0.624675255970463 |
| Abnormality of the phalanges of the 2nd finger 0 5 0.0 1.0 |
| Abnormality of the middle phalanx of the 2nd finger 0 2 0.0 1.0 |
| Aplasia hypoplasia of the phalanges of the 2nd finger 0 4 0.0 1.0 |
| Absent tibia 1 5 0.6018054162487463 0.8239879431862632 |
| Ulnar deviation of finger 7 21 1.204355108877722 0.4231077406436607 |
| Abnormal pelvis bone ossification 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal ossification of the pubic bone 0 3 0.0 1.0 |
| Aplasia hypoplasia of the pubic bone 4 14 0.9630522088353414 0.624675255970463 |
| Rhizomelia 10 46 0.6677099634846114 0.9060643457469733 |
| Childhood onset truncal obesity 1 3 1.2039451688398528 0.6473218534129999 |
| Neonatal short limb short stature 0 6 0.0 1.0 |
| Generalized neonatal hypotonia 4 17 0.7405004633920297 0.7815360505152051 |
| Generalized lymphadenopathy 1 5 0.6018054162487463 0.8239879431862632 |
| Acute rhabdomyolysis 0 3 0.0 1.0 |
| Intrinsic hand muscle atrophy 4 12 1.2041499330655958 0.4872403627234796 |
| Tibialis muscle weakness 0 5 0.0 1.0 |
| Exercise induced muscle stiffness 1 3 1.2039451688398528 0.6473218534129999 |
| Muscle hypertrophy of the lower extremities 7 28 0.8021217197096594 0.7573372587936686 |
| Leg muscle stiffness 2 13 0.4373973852234721 0.9301401965681808 |
| Hypoplasia of the musculature 5 15 1.2042182792099096 0.4619594343599049 |
| Weakness of the intrinsic hand muscles 1 9 0.3007355399531929 0.9561814898792792 |
| Exercise induced muscle fatigue 3 8 1.4450986952157912 0.4315618290558272 |
| Abdominal wall muscle weakness 2 9 0.6877209746774964 0.7922091662556401 |
| Increased muscle glycogen content 3 8 1.4450986952157912 0.4315618290558272 |
| Infantile axial hypotonia 8 30 0.8752132585912746 0.6920206151109443 |
| Decreased achilles reflex 1 4 0.8025186671124485 0.7508451551458319 |
| Progressive proximal muscle weakness 2 13 0.4373973852234721 0.9301401965681808 |
| Weakness of long finger extensor muscles 1 7 0.401092165385044 0.9121715035098086 |
| Alveolar ridge overgrowth 2 6 1.2040133779264215 0.5656089450744413 |
| Speech articulation difficulties 4 18 0.6875119525721936 0.8205132217227086 |
| Chronic oral candidiasis 3 8 1.4450986952157912 0.4315618290558272 |
| Median cleft palate 2 15 0.3700025726781579 0.9606307441557927 |
| Aplasia hypoplasia involving the pelvis 14 46 1.053643384822028 0.4908860254433825 |
| Moderately short stature 0 4 0.0 1.0 |
| Flat acetabular roof 3 17 0.515461453902404 0.9142722919386124 |
| Progressive pulmonary function impairment 2 11 0.5347454477889261 0.8781437590361336 |
| Intraalveolar phospholipid accumulation 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal macrophage morphology 5 16 1.0945917156161549 0.5270800523063662 |
| Decreased circulating igg level 11 39 0.9457037427517132 0.621795029403864 |
| Decreased circulating aldosterone level 2 6 1.2040133779264215 0.5656089450744413 |
| Vaginal fistula 7 26 0.8868024332187252 0.6781129016609558 |
| Increased body weight 93 321 0.9815362829287776 0.5806692015354252 |
| Abnormal vitreous humor morphology 6 27 0.6873026504640705 0.8480480895175238 |
| Increased skull ossification 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal lymphocyte morphology 32 112 0.9627027027027028 0.6071353389255654 |
| Abnormality of amino acid metabolism 2 5 1.6055741360089186 0.458274002951101 |
| Focal dystonia 22 74 1.0188034188034187 0.5149946613202213 |
| Hemiplegia hemiparesis 33 138 0.7540095592140201 0.9361789011732636 |
| Ventricular preexcitation 6 19 1.1114946674223298 0.500937947493563 |
| Neoplasm of the nervous system 43 155 0.9233032989391076 0.6990640982338584 |
| Supravalvular aortic stenosis 6 21 0.9630274614869392 0.6124722534016208 |
| Protracted diarrhea 0 7 0.0 1.0 |
| Gastrointestinal inflammation 20 67 1.0247415595200595 0.5099232763315673 |
| Enterocolitis 2 6 1.2040133779264215 0.5656089450744413 |
| Hamartomatous polyposis 3 12 0.8023865283818445 0.7313126477609548 |
| Multiple gastric polyps 1 4 0.8025186671124485 0.7508451551458319 |
| Malnutrition 6 18 1.204286671131949 0.4410492397467304 |
| Poor appetite 11 35 1.1039360393603936 0.4559545615058867 |
| Ectopic anus 14 50 0.9360495485411536 0.6352221901350404 |
| Abnormality of the pylorus 29 101 0.9694941313233584 0.5931924098694683 |
| Abnormal nipple morphology 53 175 1.046820876957145 0.4197068288977508 |
| Abnormality of the anus 43 165 0.8464275191923909 0.8463605280641159 |
| Spontaneous recurrent epistaxis 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal anatomic location of the heart 10 76 0.3626811373290246 0.999753210106082 |
| Short palm 18 77 0.7329625112557419 0.902028913454232 |
| Short middle phalanx of toe 0 4 0.0 1.0 |
| Irregular iliac crest 0 4 0.0 1.0 |
| Incomplete penetrance 28 94 1.021674232200548 0.5014621530234934 |
| Shoulder dislocation 3 12 0.8023865283818445 0.7313126477609548 |
| Abnormality of upper limb epiphysis morphology 13 42 1.0796842263661723 0.4670336914638366 |
| Absent forearm bone 4 21 0.56595007480904 0.9043043121411438 |
| Abnormality of the radial head 7 36 0.5801998498238318 0.9371225820839008 |
| Abnormality of radial epiphyses 0 3 0.0 1.0 |
| Abnormality of ulnar metaphysis 1 3 1.2039451688398528 0.6473218534129999 |
| Absent hand 1 14 0.1849394336856724 0.9923015601562292 |
| Sclerosis of hand bone 1 10 0.2672833314759092 0.969051322224564 |
| Narrow palm 2 8 0.8024526198439242 0.7316356285104274 |
| Mitten deformity 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal 2nd finger morphology 4 21 0.56595007480904 0.9043043121411438 |
| Midline defect of the nose 1 10 0.2672833314759092 0.969051322224564 |
| Abnormal 3rd finger morphology 2 14 0.400891861761427 0.947457693040818 |
| Abnormal 4th finger morphology 0 7 0.0 1.0 |
| Abnormal 5th finger morphology 93 358 0.8400124961763002 0.932332563323686 |
| Abnormal 5th finger phalanx morphology 1 12 0.2186255736907692 0.9845631783003476 |
| Abnormality of the middle phalanx of the 5th finger 1 9 0.3007355399531929 0.9561814898792792 |
| Abnormality of the distal phalanx of the 5th finger 0 3 0.0 1.0 |
| Advanced ossification of carpal bones 1 4 0.8025186671124485 0.7508451551458319 |
| Osteoarthritis of the small joints of the hand 0 1 0.0 1.0 |
| Duplication of hand bones 52 187 0.9261476442428824 0.7051535997568936 |
| Macrodactyly 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormality of the sense of smell 17 65 0.8519047619047619 0.75599109853962 |
| Deviated nasal septum 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormality of the pulmonary artery 33 131 0.8086639860405128 0.87539575991474 |
| Cervical c2 c3 vertebral fusion 0 2 0.0 1.0 |
| Biconvex vertebral bodies 0 3 0.0 1.0 |
| Lumbar scoliosis 3 9 1.2040816326530612 0.5196282464541333 |
| Decreased cervical spine mobility 1 7 0.401092165385044 0.9121715035098086 |
| Decreased facial expression 24 100 0.7584054475812172 0.9034699180272496 |
| Short fourth metatarsal 2 7 0.963076923076923 0.6566171786481523 |
| 2 3 toe syndactyly 24 82 0.9962821823589552 0.5479820732668441 |
| 4 5 toe syndactyly 1 3 1.2039451688398528 0.6473218534129999 |
| Renal malrotation 1 5 0.6018054162487463 0.8239879431862632 |
| Impaired renal concentrating ability 0 1 0.0 1.0 |
| Renal cortical microcysts 2 5 1.6055741360089186 0.458274002951101 |
| Absent or minimally ossified vertebral bodies 3 14 0.6563155813741294 0.8262352177182655 |
| Crossed fused renal ectopia 0 8 0.0 1.0 |
| Paroxysmal ventricular tachycardia 2 11 0.5347454477889261 0.8781437590361336 |
| Supraventricular tachycardia 3 23 0.3605219136835061 0.9817197591964204 |
| Paroxysmal atrial fibrillation 0 3 0.0 1.0 |
| Esophageal ulceration 0 2 0.0 1.0 |
| Gastrointestinal obstruction 13 51 0.8229359905302026 0.7735800151180123 |
| Recurrent infection of the gastrointestinal tract 5 21 0.7520087043856712 0.7833805412598392 |
| Congenital hemolytic anemia 1 5 0.6018054162487463 0.8239879431862632 |
| Neonatal alloimmune thrombocytopenia 3 10 1.031926587965397 0.5996338369181741 |
| Hypochromic microcytic anemia 2 8 0.8024526198439242 0.7316356285104274 |
| Coombs positive hemolytic anemia 1 4 0.8025186671124485 0.7508451551458319 |
| Prolonged bleeding after surgery 1 5 0.6018054162487463 0.8239879431862632 |
| Atrial flutter 2 14 0.400891861761427 0.947457693040818 |
| Biconcave vertebral bodies 5 17 1.0032362459546926 0.5884307536605788 |
| Sclerotic vertebral endplates 1 3 1.2039451688398528 0.6473218534129999 |
| Increased vertebral height 2 8 0.8024526198439242 0.7316356285104274 |
| Pulmonary artery stenosis 15 58 0.839107576692628 0.7639009510193251 |
| Precocious atherosclerosis 1 4 0.8025186671124485 0.7508451551458319 |
| Intermittent claudication 0 3 0.0 1.0 |
| Thrombophlebitis 0 4 0.0 1.0 |
| Recurrent thrombophlebitis 0 1 0.0 1.0 |
| Biparietal narrowing 9 56 0.4594332422735929 0.993065938484945 |
| Abnormality of the cheek 54 194 0.9273947291646408 0.7048041902317562 |
| Agammaglobulinemia 1 11 0.2405215646940822 0.9781420785502122 |
| Coronal craniosynostosis 5 18 0.9259354639334552 0.6451159513320872 |
| Lambdoidal craniosynostosis 2 10 0.6016722408026756 0.8403529985689939 |
| Spherocytosis 0 2 0.0 1.0 |
| Stomatocytosis 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormality of the middle ear ossicles 2 9 0.6877209746774964 0.7922091662556401 |
| Overfolding of the superior helices 1 5 0.6018054162487463 0.8239879431862632 |
| Dilatated internal auditory canal 0 1 0.0 1.0 |
| Absent brainstem auditory responses 3 9 1.2040816326530612 0.5196282464541333 |
| Chronic bronchitis 1 8 0.3437455222811291 0.9379623427931464 |
| Progressive macrocephaly 1 5 0.6018054162487463 0.8239879431862632 |
| Macrocephaly at birth 1 6 0.4813774657305249 0.8756637428026797 |
| Large posterior fontanelle 0 3 0.0 1.0 |
| Craniofacial hyperostosis 6 23 0.8494937157716402 0.7085172143039323 |
| Pancreatic islet cell hyperplasia 3 8 1.4450986952157912 0.4315618290558272 |
| Scarring alopecia of scalp 3 10 1.031926587965397 0.5996338369181741 |
| Generalized hypertrichosis 1 2 2.4082246740220663 0.5008051893494083 |
| Severe platyspondyly 0 5 0.0 1.0 |
| Deposits immunoreactive to beta amyloid protein 2 7 0.963076923076923 0.6566171786481523 |
| Reduced protein s activity 2 6 1.2040133779264215 0.5656089450744413 |
| Decreased csf homovanillic acid 0 3 0.0 1.0 |
| Excessive salivation 25 86 0.986673075966782 0.5632650273523839 |
| Cystathioninemia 0 5 0.0 1.0 |
| Ovoid vertebral bodies 7 21 1.204355108877722 0.4231077406436607 |
| Irregular vertebral endplates 5 17 1.0032362459546926 0.5884307536605788 |
| Spondylolisthesis 2 10 0.6016722408026756 0.8403529985689939 |
| Cervical subluxation 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormality of the odontoid process 6 20 1.031958664242656 0.5583681068930001 |
| Hypoplasia of the odontoid process 5 17 1.0032362459546926 0.5884307536605788 |
| Butterfly vertebrae 3 11 0.9028103044496488 0.6702945765004975 |
| C1 c2 subluxation 0 3 0.0 1.0 |
| Progressive muscle weakness 12 51 0.7398038203407331 0.8582578855024988 |
| Axial muscle weakness 4 20 0.6014056224899599 0.8812712129159418 |
| Narrow pelvis bone 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal enchondral ossification 25 86 0.986673075966782 0.5632650273523839 |
| Decreased circulating renin level 0 1 0.0 1.0 |
| Increased vldl cholesterol concentration 0 3 0.0 1.0 |
| Arthralgia of the hip 0 4 0.0 1.0 |
| Abnormal femoral neck morphology 32 105 1.0560533135875605 0.4355192276578504 |
| Onion bulb formation 7 22 1.1239084310441094 0.4786794787334251 |
| Gowers sign 13 44 1.009745638826625 0.5452897721452463 |
| First dorsal interossei muscle weakness 1 4 0.8025186671124485 0.7508451551458319 |
| Thenar muscle atrophy 3 8 1.4450986952157912 0.4315618290558272 |
| Syringomyelia 3 20 0.4243205478912876 0.9596870100427658 |
| Paresthesia 23 75 1.065471409695054 0.4435347501321047 |
| Decreased miniature endplate potentials 0 2 0.0 1.0 |
| Impaired lymphocyte transformation with phytohemagglutinin 1 4 0.8025186671124485 0.7508451551458319 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 3 13 0.7220475075276012 0.7830437973449951 |
| Abdominal distention 20 80 0.8012561686855092 0.8363785780002071 |
| Smooth muscle antibody positivity 2 5 1.6055741360089186 0.458274002951101 |
| Wide pubic symphysis 0 4 0.0 1.0 |
| Decreased hip abduction 0 2 0.0 1.0 |
| Short greater sciatic notch 0 4 0.0 1.0 |
| Inverted nipples 6 31 0.5770127260549229 0.9276030862003526 |
| Breast hypoplasia 3 22 0.3795495765174059 0.9761225818261172 |
| Long nose 7 26 0.8868024332187252 0.6781129016609558 |
| Allergic rhinitis 2 5 1.6055741360089186 0.458274002951101 |
| Impaired oxidative burst 0 2 0.0 1.0 |
| Intracellular accumulation of autofluorescent lipopigment storage material 2 8 0.8024526198439242 0.7316356285104274 |
| Decreased activity of nadph oxidase 1 2 2.4082246740220663 0.5008051893494083 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 1 5 0.6018054162487463 0.8239879431862632 |
| Neonatal hyperbilirubinemia 3 9 1.2040816326530612 0.5196282464541333 |
| Decreased methylmalonyl coa mutase activity 1 5 0.6018054162487463 0.8239879431862632 |
| Hyperglutaminemia 0 3 0.0 1.0 |
| Abnormality of chromosome stability 13 48 0.8938474080468038 0.6867117733721868 |
| Chromosomal breakage induced by crosslinking agents 3 10 1.031926587965397 0.5996338369181741 |
| Decreased methylcobalamin 2 8 0.8024526198439242 0.7316356285104274 |
| Hypernatremia 0 3 0.0 1.0 |
| Increased circulating igg level 3 10 1.031926587965397 0.5996338369181741 |
| External genital hypoplasia 117 398 1.0026192170818506 0.5102534445011747 |
| Overgrowth of external genitalia 0 7 0.0 1.0 |
| Male infertility 6 40 0.4237421693392695 0.9892946092197176 |
| Abnormality of dna repair 4 18 0.6875119525721936 0.8205132217227086 |
| Increased circulating iga level 3 11 0.9028103044496488 0.6702945765004975 |
| Generalized amyloid deposition 0 3 0.0 1.0 |
| Proximal femoral metaphyseal irregularity 2 6 1.2040133779264215 0.5656089450744413 |
| Atlantoaxial dislocation 2 5 1.6055741360089186 0.458274002951101 |
| Spinal canal stenosis 7 29 0.7655550479671083 0.7912410887123539 |
| Bicarbonaturia 1 3 1.2039451688398528 0.6473218534129999 |
| Lacticaciduria 5 15 1.2042182792099096 0.4619594343599049 |
| Hypomethioninemia 1 6 0.4813774657305249 0.8756637428026797 |
| Centrally nucleated skeletal muscle fibers 6 21 0.9630274614869392 0.6124722534016208 |
| Multiple mitochondrial dna deletions 2 5 1.6055741360089186 0.458274002951101 |
| Calf muscle pseudohypertrophy 1 14 0.1849394336856724 0.9923015601562292 |
| Muscle fiber necrosis 2 6 1.2040133779264215 0.5656089450744413 |
| Neck flexor weakness 4 20 0.6014056224899599 0.8812712129159418 |
| Shoulder girdle muscle atrophy 2 8 0.8024526198439242 0.7316356285104274 |
| Quadriceps muscle weakness 4 14 0.9630522088353414 0.624675255970463 |
| Autophagic vacuoles 1 4 0.8025186671124485 0.7508451551458319 |
| Antiphospholipid antibody positivity 2 9 0.6877209746774964 0.7922091662556401 |
| Myoclonic spasms 4 23 0.5062354681885437 0.9388080659008848 |
| Genetic anticipation 2 8 0.8024526198439242 0.7316356285104274 |
| Pelvic girdle muscle weakness 7 26 0.8868024332187252 0.6781129016609558 |
| Increased muscle fatiguability 3 10 1.031926587965397 0.5996338369181741 |
| Type 1 fibers relatively smaller than type 2 fibers 1 3 1.2039451688398528 0.6473218534129999 |
| Uterus didelphys 2 10 0.6016722408026756 0.8403529985689939 |
| Nevus 28 108 0.8412280701754385 0.8126507580818214 |
| Psoriasiform dermatitis 3 16 0.5551895411380189 0.8908482493424653 |
| Periodic paralysis 1 3 1.2039451688398528 0.6473218534129999 |
| Pulp calcification 0 3 0.0 1.0 |
| Stage 5 chronic kidney disease 26 88 1.0097883540338894 0.5239404583117983 |
| Pili torti 2 6 1.2040133779264215 0.5656089450744413 |
| Congenital muscular dystrophy 2 16 0.3435260391782131 0.9705996719890696 |
| Low plasma citrulline 1 9 0.3007355399531929 0.9561814898792792 |
| Birth length less than 3rd percentile 3 14 0.6563155813741294 0.8262352177182655 |
| Viral infection induced rhabdomyolysis 1 7 0.401092165385044 0.9121715035098086 |
| Coronal cleft vertebrae 3 11 0.9028103044496488 0.6702945765004975 |
| Low back pain 2 6 1.2040133779264215 0.5656089450744413 |
| Vertebral segmentation defect 28 102 0.910201699675384 0.6986175769969982 |
| Thoracolumbar kyphoscoliosis 1 5 0.6018054162487463 0.8239879431862632 |
| Decreased size of nerve terminals 1 5 0.6018054162487463 0.8239879431862632 |
| Antineutrophil antibody positivity 3 12 0.8023865283818445 0.7313126477609548 |
| Polyclonal elevation of igm 1 6 0.4813774657305249 0.8756637428026797 |
| Decreased circulating total iga 1 5 0.6018054162487463 0.8239879431862632 |
| Atlantoaxial instability 1 4 0.8025186671124485 0.7508451551458319 |
| Hypocalcemic tetany 1 4 0.8025186671124485 0.7508451551458319 |
| Segmental peripheral demyelination remyelination 4 12 1.2041499330655958 0.4872403627234796 |
| Emg axonal abnormality 2 6 1.2040133779264215 0.5656089450744413 |
| Antinuclear antibody positivity 4 15 0.8753803091152489 0.6838446456385155 |
| Disproportionate short stature 21 89 0.7417585681192705 0.9077320693625373 |
| Mild short stature 3 12 0.8023865283818445 0.7313126477609548 |
| Proportionate short stature 32 107 1.0276036036036036 0.485643977921301 |
| Severe short stature 22 83 0.8673952641165756 0.7524821262541876 |
| Birth length greater than 97th percentile 1 5 0.6018054162487463 0.8239879431862632 |
| Disproportionate short trunk short stature 4 20 0.6014056224899599 0.8812712129159418 |
| Elevated calcitonin 7 24 0.99140802049463 0.5842864352535018 |
| Hypouricemia 2 9 0.6877209746774964 0.7922091662556401 |
| Predominantly lower limb lymphedema 1 4 0.8025186671124485 0.7508451551458319 |
| Muscle stiffness 17 55 1.077593984962406 0.4494790746551884 |
| Type 2 muscle fiber atrophy 3 10 1.031926587965397 0.5996338369181741 |
| Muscle fiber splitting 1 8 0.3437455222811291 0.9379623427931464 |
| Eunuchoid habitus 2 7 0.963076923076923 0.6566171786481523 |
| Amegakaryocytic thrombocytopenia 2 5 1.6055741360089186 0.458274002951101 |
| Impaired adp induced platelet aggregation 2 5 1.6055741360089186 0.458274002951101 |
| Perineal fistula 0 9 0.0 1.0 |
| Abnormal epiphysis morphology of the phalanges of the hand 6 28 0.6559702855751081 0.8727874069814987 |
| Abnormality of epiphysis morphology 52 191 0.8989869329026575 0.7656387216651441 |
| Abnormal renal corticomedullary differentiation 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal respiratory motile cilium morphology 1 7 0.401092165385044 0.9121715035098086 |
| Ventilator dependence with inability to wean 1 4 0.8025186671124485 0.7508451551458319 |
| Apneic episodes in infancy 1 3 1.2039451688398528 0.6473218534129999 |
| Decreased pulmonary function 3 13 0.7220475075276012 0.7830437973449951 |
| Breathing dysregulation 3 15 0.6015389762462362 0.8618328607283439 |
| Limitation of neck motion 3 17 0.515461453902404 0.9142722919386124 |
| Congenital muscular torticollis 1 4 0.8025186671124485 0.7508451551458319 |
| Nodular goiter 2 6 1.2040133779264215 0.5656089450744413 |
| Abnormal finger phalanx morphology 153 530 0.9759208373703522 0.6145000049080639 |
| Ureteral obstruction 6 26 0.721768251841929 0.8195103866850959 |
| Y shaped metacarpals 1 11 0.2405215646940822 0.9781420785502122 |
| Metacarpophalangeal joint contracture 1 4 0.8025186671124485 0.7508451551458319 |
| Palmar hyperhidrosis 1 7 0.401092165385044 0.9121715035098086 |
| 3 4 finger syndactyly 2 5 1.6055741360089186 0.458274002951101 |
| Finger syndactyly 33 155 0.647388628191846 0.9911139982041488 |
| Absent phalangeal crease 0 5 0.0 1.0 |
| Shortening of all middle phalanges of the fingers 1 6 0.4813774657305249 0.8756637428026797 |
| Shortening of all distal phalanges of the fingers 9 31 0.984944991314418 0.5827692698138716 |
| Abnormal finger flexion creases 0 7 0.0 1.0 |
| Central y shaped metacarpal 1 8 0.3437455222811291 0.9379623427931464 |
| Increased laxity of fingers 0 3 0.0 1.0 |
| Abnormally shaped carpal bones 1 4 0.8025186671124485 0.7508451551458319 |
| Swan neck like deformities of the fingers 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormal metacarpal morphology 28 114 0.7818786680475787 0.8924688186524369 |
| Biliary atresia 2 8 0.8024526198439242 0.7316356285104274 |
| Renal magnesium wasting 1 2 2.4082246740220663 0.5008051893494083 |
| Hemolytic uremic syndrome 0 6 0.0 1.0 |
| Duplication of renal pelvis 0 4 0.0 1.0 |
| Spotty hyperpigmentation 2 7 0.963076923076923 0.6566171786481523 |
| Hyperpigmentation in sun exposed areas 1 5 0.6018054162487463 0.8239879431862632 |
| Spotty hypopigmentation 1 8 0.3437455222811291 0.9379623427931464 |
| Large cafe au lait macules with irregular margins 0 7 0.0 1.0 |
| Abnormal tracheobronchial morphology 53 211 0.8041958644333516 0.92659477564395 |
| Accelerated skeletal maturation 10 49 0.6160897005967428 0.9419931889926207 |
| Bilateral camptodactyly 2 6 1.2040133779264215 0.5656089450744413 |
| Broad long bones 31 138 0.6944073579587599 0.9725370569293598 |
| Aplasia hypoplasia involving the metacarpal bones 22 89 0.7890547263681592 0.8605458778752415 |
| Abnormal vertebral segmentation and fusion 2 8 0.8024526198439242 0.7316356285104274 |
| Juvenile rheumatoid arthritis 1 4 0.8025186671124485 0.7508451551458319 |
| Joint hyperflexibility 37 146 0.8150235179062078 0.8782380953621894 |
| Lethal skeletal dysplasia 2 9 0.6877209746774964 0.7922091662556401 |
| Short tibia 2 14 0.400891861761427 0.947457693040818 |
| Avascular necrosis of the capital femoral epiphysis 3 19 0.4509033121445299 0.9479246404767652 |
| Basilar impression 0 2 0.0 1.0 |
| Aplasia hypoplasia of the tibia 3 18 0.4810304449648712 0.933024105996546 |
| Short middle phalanx of finger 3 29 0.277092930488715 0.9965295982974371 |
| Progressive flexion contractures 1 7 0.401092165385044 0.9121715035098086 |
| Congenital finger flexion contractures 1 5 0.6018054162487463 0.8239879431862632 |
| Abnormal cervical curvature 2 6 1.2040133779264215 0.5656089450744413 |
| Positional foot deformity 88 311 0.9486343253159396 0.6806116079090812 |
| Mesoaxial hand polydactyly 1 7 0.401092165385044 0.9121715035098086 |
| Phalangeal dislocation 1 5 0.6018054162487463 0.8239879431862632 |
| Enlarged interphalangeal joints 0 3 0.0 1.0 |
| Increased density of long bones 2 8 0.8024526198439242 0.7316356285104274 |
| Limited pronation supination of forearm 0 4 0.0 1.0 |
| Broad femoral neck 2 7 0.963076923076923 0.6566171786481523 |
| Patellar aplasia 4 17 0.7405004633920297 0.7815360505152051 |
| Increased laxity of ankles 2 5 1.6055741360089186 0.458274002951101 |
| Abnormality of the alveolar ridges 6 29 0.6273624741547511 0.894060359590428 |
| Abnormal dental pulp morphology 6 36 0.480509042196919 0.9740608669684238 |
| Abnormality of primary teeth 14 48 0.9913878244380356 0.5653166618279781 |
| Abnormality of dental morphology 58 205 0.9490097334093828 0.6565250735607643 |
| Abnormal number of teeth 69 242 0.9593813466645836 0.637191575294044 |
| Agenesis of incisor 3 19 0.4509033121445299 0.9479246404767652 |
| Short lower limbs 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormal dental root morphology 6 35 0.4971476083793334 0.96790448615865 |
| Aplasia hypoplasia involving bones of the lower limbs 80 290 0.9149659863945578 0.766895328359368 |
| Aplasia hypoplasia involving bones of the feet 59 226 0.8476391914432302 0.8767353439143339 |
| Aplasia hypoplasia of the ulna 10 49 0.6160897005967428 0.9419931889926207 |
| Aplasia hypoplasia of the patella 5 23 0.6682661905293308 0.8495505493646256 |
| Abnormality of lower limb epiphysis morphology 15 52 0.9759961506686398 0.5837409096921417 |
| Aplasia hypoplasia of the radius 15 67 0.693005348699 0.9207437123173776 |
| Aplasia hypoplasia involving the carpal bones 4 13 1.0702067529376766 0.5588754825262198 |
| Aplasia hypoplasia involving forearm bones 17 80 0.6477097505668934 0.960794435361451 |
| Abnormality of tibial epiphyses 0 1 0.0 1.0 |
| Laryngeal stridor 1 6 0.4813774657305249 0.8756637428026797 |
| Interstitial pneumonitis 1 5 0.6018054162487463 0.8239879431862632 |
| Bowing of the arm 5 19 0.8596776507723947 0.6966080955472779 |
| Limited elbow flexion 0 7 0.0 1.0 |
| Crumpled long bones 2 5 1.6055741360089186 0.458274002951101 |
| Premature loss of permanent teeth 0 2 0.0 1.0 |
| Limited wrist extension 0 3 0.0 1.0 |
| Interphalangeal joint erosions 0 1 0.0 1.0 |
| Abnormality of hand joint mobility 4 21 0.56595007480904 0.9043043121411438 |
| Abnormality of carpal bone ossification 4 18 0.6875119525721936 0.8205132217227086 |
| Abnormal phalangeal joint morphology of the hand 33 143 0.719229469415343 0.9624717596873594 |
| Aplasia hypoplasia of the 2nd finger 0 7 0.0 1.0 |
| Hypoplastic spleen 1 2 2.4082246740220663 0.5008051893494083 |
| Reduced pancreatic beta cells 2 6 1.2040133779264215 0.5656089450744413 |
| Enamel hypomineralization 0 1 0.0 1.0 |
| Yellow brown discoloration of the teeth 0 3 0.0 1.0 |
| Agenesis of central incisor 1 8 0.3437455222811291 0.9379623427931464 |
| Abnormality of dental eruption 53 175 1.046820876957145 0.4197068288977508 |
| Enamel hypoplasia 11 61 0.527970479704797 0.9851276722769706 |
| Prolonged bleeding after dental extraction 1 5 0.6018054162487463 0.8239879431862632 |
| Widely spaced incisors 3 8 1.4450986952157912 0.4315618290558272 |
| Atrophy of alveolar ridges 1 2 2.4082246740220663 0.5008051893494083 |
| Widely spaced primary teeth 0 6 0.0 1.0 |
| Solitary median maxillary central incisor 3 14 0.6563155813741294 0.8262352177182655 |
| Premature loss of primary teeth 3 13 0.7220475075276012 0.7830437973449951 |
| Supernumerary maxillary incisor 0 2 0.0 1.0 |
| Hypoplasia of the primary teeth 0 6 0.0 1.0 |
| Peg shaped maxillary lateral incisors 0 12 0.0 1.0 |
| Abnormality of primary molar morphology 0 8 0.0 1.0 |
| Agenesis of permanent teeth 1 14 0.1849394336856724 0.9923015601562292 |
| Failure of eruption of permanent teeth 2 5 1.6055741360089186 0.458274002951101 |
| Imbalanced hemoglobin synthesis 0 2 0.0 1.0 |
| Chronic leukemia 3 15 0.6015389762462362 0.8618328607283439 |
| Abnormality of the metopic suture 15 53 0.9501794459275498 0.6175660693189762 |
| Chronic lymphatic leukemia 3 11 0.9028103044496488 0.6702945765004975 |
| Shortening of all phalanges of the toes 0 4 0.0 1.0 |
| Proximal radio ulnar synostosis 0 4 0.0 1.0 |
| Synostosis of carpal bones 3 15 0.6015389762462362 0.8618328607283439 |
| Metaphyseal spurs 1 4 0.8025186671124485 0.7508451551458319 |
| Hyperextensibility at wrists 1 5 0.6018054162487463 0.8239879431862632 |
| Knee osteoarthritis 0 4 0.0 1.0 |
| Abnormal metaphyseal trabeculation 4 16 0.8023203926818384 0.7360995100844776 |
| High frequency hearing impairment 1 3 1.2039451688398528 0.6473218534129999 |
| Abnormality of the vertebral endplates 6 23 0.8494937157716402 0.7085172143039323 |
| Abnormality of the intervertebral disk 6 24 0.8021879883902657 0.7499274740177471 |
| Abdominal aortic aneurysm 3 16 0.5551895411380189 0.8908482493424653 |
| Diaphyseal thickening 3 8 1.4450986952157912 0.4315618290558272 |
| Aortic arch aneurysm 8 32 0.8020554066130474 0.7646961206123176 |
| Right ventricular dilatation 2 9 0.6877209746774964 0.7922091662556401 |
| Abnormal t wave 4 14 0.9630522088353414 0.624675255970463 |
| Coronary artery stenosis 0 4 0.0 1.0 |
| Abnormal atrioventricular conduction 12 41 0.9962971534367044 0.5632219730786405 |
| Concentric hypertrophic cardiomyopathy 3 12 0.8023865283818445 0.7313126477609548 |
| Shortened pr interval 1 4 0.8025186671124485 0.7508451551458319 |
| Premature arteriosclerosis 1 5 0.6018054162487463 0.8239879431862632 |
| Premature coronary artery atherosclerosis 1 8 0.3437455222811291 0.9379623427931464 |
| Prolonged qtc interval 2 8 0.8024526198439242 0.7316356285104274 |
| Synovial hypertrophy 0 3 0.0 1.0 |
| Polyarticular arthropathy 1 6 0.4813774657305249 0.8756637428026797 |
| Supraventricular arrhythmia 14 57 0.7829040873381542 0.8261498661303183 |
| Aplasia hypoplasia of the capital femoral epiphysis 4 12 1.2041499330655958 0.4872403627234796 |
| Rhizomelic arm shortening 0 7 0.0 1.0 |
| Knee dislocation 1 6 0.4813774657305249 0.8756637428026797 |
| Intercostal muscle weakness 1 6 0.4813774657305249 0.8756637428026797 |
| Episodic respiratory distress 2 12 0.4812040133779264 0.9075099812904824 |
| Respiratory failure requiring assisted ventilation 5 24 0.6330061846950822 0.8757671481753739 |
| Intermittent episodes of respiratory insufficiency due to muscle weakness 1 7 0.401092165385044 0.9121715035098086 |
| Elevated pulmonary artery pressure 20 89 0.6958667368872764 0.9422139676179866 |
| Maturity onset diabetes of the young 2 6 1.2040133779264215 0.5656089450744413 |
| Bicarbonate wasting renal tubular acidosis 0 3 0.0 1.0 |
| Hypophosphatemic rickets 1 11 0.2405215646940822 0.9781420785502122 |
| Abnormal oral glucose tolerance 1 5 0.6018054162487463 0.8239879431862632 |
| Pulmonary artery dilatation 13 43 1.0435492894707397 0.5065548172238039 |
| Abnormality of the pulmonary vasculature 38 163 0.7285091401489506 0.965721135793473 |
| Ascending aortic dissection 1 15 0.1717055929693843 0.9945637612889204 |
| Vascular calcification 5 21 0.7520087043856712 0.7833805412598392 |
| Pulmonary artery atresia 2 18 0.3005016722408026 0.9837457247494442 |
| Venous thrombosis 13 41 1.1184002301827076 0.4270837152483193 |
| Pulmonary artery aneurysm 0 3 0.0 1.0 |
| Accelerated atherosclerosis 1 3 1.2039451688398528 0.6473218534129999 |
| Dilatation of the cerebral artery 10 33 1.0470066777476452 0.5174084723579307 |
| Arteriovenous fistula 0 6 0.0 1.0 |
| Vascular tortuosity 2 19 0.2827857564430454 0.9879599699433071 |
| Peripheral arterial stenosis 2 19 0.2827857564430454 0.9879599699433071 |
| Thoracic aorta calcification 0 4 0.0 1.0 |
| Calcification of the aorta 4 14 0.9630522088353414 0.624675255970463 |
| Peripheral pulmonary artery stenosis 9 29 1.0837412001340931 0.4902657909804968 |
| Pulmonary artery hypoplasia 1 3 1.2039451688398528 0.6473218534129999 |
| Helicobacter pylori infection 0 3 0.0 1.0 |
| Alveolar cell carcinoma 1 10 0.2672833314759092 0.969051322224564 |
| Pancreatic pseudocyst 0 1 0.0 1.0 |
| Pancreatic calcification 0 2 0.0 1.0 |
| Recurrent haemophilus influenzae infections 0 1 0.0 1.0 |
| Recurrent protozoan infections 0 3 0.0 1.0 |
| Combined immunodeficiency 7 22 1.1239084310441094 0.4786794787334251 |
| Recurrent candida infections 0 5 0.0 1.0 |
| T lymphocytopenia 8 30 0.8752132585912746 0.6920206151109443 |
| Increased b cell count 1 4 0.8025186671124485 0.7508451551458319 |
| Recurrent bacterial skin infections 2 16 0.3435260391782131 0.9705996719890696 |
| Decreased proportion of cd4 positive helper t cells 4 20 0.6014056224899599 0.8812712129159418 |
| Decreased proportion of cd8 positive t cells 1 4 0.8025186671124485 0.7508451551458319 |
| Recurrent gram negative bacterial infections 0 2 0.0 1.0 |
| Decreased serum complement c3 1 7 0.401092165385044 0.9121715035098086 |
| Cellular immunodeficiency 9 29 1.0837412001340931 0.4902657909804968 |
| Recurrent sinopulmonary infections 6 29 0.6273624741547511 0.894060359590428 |
| Calcification of falx cerebri 0 1 0.0 1.0 |
| Craniofacial osteosclerosis 2 7 0.963076923076923 0.6566171786481523 |
| Facial hyperostosis 1 4 0.8025186671124485 0.7508451551458319 |
| Flat occiput 13 44 1.009745638826625 0.5452897721452463 |
| Abnormal epiglottis morphology 4 16 0.8023203926818384 0.7360995100844776 |
| Prominent metopic ridge 13 44 1.009745638826625 0.5452897721452463 |
| Refractory anemia 1 3 1.2039451688398528 0.6473218534129999 |
| Chronic myelogenous leukemia 0 3 0.0 1.0 |
| Pyridoxine responsive sideroblastic anemia 3 23 0.3605219136835061 0.9817197591964204 |
| Reduced protein c activity 2 6 1.2040133779264215 0.5656089450744413 |
| Myeloproliferative disorder 1 11 0.2405215646940822 0.9781420785502122 |
| Calvarial osteosclerosis 1 2 2.4082246740220663 0.5008051893494083 |
| Severe b lymphocytopenia 1 3 1.2039451688398528 0.6473218534129999 |
| Lack of t cell function 2 5 1.6055741360089186 0.458274002951101 |
| Recurrent herpes 3 10 1.031926587965397 0.5996338369181741 |
| Impaired mastication 6 30 0.601138647019424 0.9122157934436538 |
| Anoperineal fistula 0 4 0.0 1.0 |
| Bowel diverticulosis 8 28 0.9630026809651474 0.6065019306411906 |
| Rectal abscess 1 3 1.2039451688398528 0.6473218534129999 |
| Adenomatous colonic polyposis 3 11 0.9028103044496488 0.6702945765004975 |
| Gastrointestinal infarctions 2 7 0.963076923076923 0.6566171786481523 |
| Functional intestinal obstruction 3 11 0.9028103044496488 0.6702945765004975 |
| Thoracic hypoplasia 27 96 0.941637949996334 0.6416362123508409 |
| Pectoral muscle hypoplasia aplasia 0 5 0.0 1.0 |
| Abnormal jejunum morphology 1 4 0.8025186671124485 0.7508451551458319 |
| Spontaneous abortion 2 11 0.5347454477889261 0.8781437590361336 |
| Prominent nasal tip 2 16 0.3435260391782131 0.9705996719890696 |
| Venous insufficiency 5 28 0.5226270359965648 0.9452023323208796 |
| Arterial dissection 1 7 0.401092165385044 0.9121715035098086 |
| Cerebral venous thrombosis 2 5 1.6055741360089186 0.458274002951101 |
| Capillary hemangioma 6 33 0.5341221998958101 0.9514052306058814 |
| Increased pulmonary vascular resistance 0 9 0.0 1.0 |
| Disturbance of facial expression 5 17 1.0032362459546926 0.5884307536605788 |
| Abnormality of complement system 3 9 1.2040816326530612 0.5196282464541333 |
| Hypoplasia of the bladder 0 4 0.0 1.0 |
| Abnormal carotid artery morphology 14 66 0.646587797695924 0.9480816293280538 |
| Abnormal vena cava morphology 5 39 0.3530002560113432 0.9958082107547568 |
| Abnormal facial expression 29 116 0.8006524918438519 0.8730381741786402 |
| Inspiratory stridor 1 4 0.8025186671124485 0.7508451551458319 |
| Hypoplasia of the epiglottis 1 6 0.4813774657305249 0.8756637428026797 |
| Secretory diarrhea 1 4 0.8025186671124485 0.7508451551458319 |
| Abnormal lung development 45 151 1.022498095280778 0.4816075600833008 |
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