| term overlap setsize score pval |
| Radial deviation of the hand 0 1 4.368718443662916 1.2497776852082865e-05 |
| Unilateral cryptorchidism 1 1 -4.354113170266598 1.336066762247512e-05 |
| Intermittent claudication 1 1 -4.354113170266598 1.336066762247512e-05 |
| Pruritis on hand 1 1 -4.339698161588158 1.4267855561467258e-05 |
| Intermittent jaundice 1 1 -4.339698161588158 1.4267855561467258e-05 |
| Calvarial osteosclerosis 0 1 4.333223728526886 1.4694164625073114e-05 |
| C1 c2 subluxation 1 1 -4.315051095427407 1.595659918640635e-05 |
| C1 c2 vertebral abnormality 1 1 -4.315051095427407 1.595659918640635e-05 |
| Hypoplastic cervical vertebrae 0 1 4.312875020174275 1.6114522089605288e-05 |
| Aplasia hypoplasia of the nasal septum 0 1 4.312875020174275 1.6114522089605288e-05 |
| Increased cup to disc ratio 1 1 -4.308239253994135 1.645593240340304e-05 |
| Acute myeloid leukemia 27 42 4.30501441810863 1.6697486032946074e-05 |
| Perifoveal ring of hyperautofluorescence 0 1 4.292477956764221 1.7669009649168288e-05 |
| Acephalic spermatozoa 1 1 -4.281791401973499 1.853947365804132e-05 |
| Abnormal sperm head morphology 1 1 -4.281791401973499 1.853947365804132e-05 |
| Abnormal germ cell morphology 1 1 -4.281791401973499 1.853947365804132e-05 |
| Congenital muscular torticollis 0 1 4.267766592939431 1.974397491522062e-05 |
| Abnormal atrioventricular connection 1 1 -4.244967955424755 2.1862466208499853e-05 |
| Persistent pupillary membrane 1 1 -4.244967955424755 2.1862466208499853e-05 |
| Abnormal cellular composition of bronchoalveolar fluid 0 1 4.243839504660835 2.197275301263346e-05 |
| Juvenile rheumatoid arthritis 0 1 4.236134425530606 2.27400670920197e-05 |
| Limited neck range of motion 1 1 -4.227785806283993 2.3600229541731466e-05 |
| Facial tics 1 1 -4.227785806283993 2.3600229541731466e-05 |
| Photosensitive myoclonic seizure 1 1 -4.227785806283993 2.3600229541731466e-05 |
| Congenital hemolytic anemia 0 1 4.193201496589111 2.7504492883245742e-05 |
| Abnormal erythrocyte physiology 0 1 4.193201496589111 2.7504492883245742e-05 |
| Duplication of renal pelvis 1 1 -4.1881332037320105 2.812584290046161e-05 |
| Round ear 0 1 4.17079077055685 3.035444675880683e-05 |
| Predominantly lower limb lymphedema 0 1 4.165610692278959 3.10520210446974e-05 |
| Upper eyelid edema 1 1 -4.153499873319572 3.2742839418453684e-05 |
| Increased pulmonary vascular resistance 1 1 -4.1422131783041225 3.439703966545693e-05 |
| St segment depression 1 1 -4.1422131783041225 3.439703966545693e-05 |
| Anterior pituitary agenesis 1 1 -4.1422131783041225 3.439703966545693e-05 |
| Paracentral scotoma 0 1 4.097110907867118 4.183385022260566e-05 |
| Abnormal hemoglobin 18 31 4.055609443325817 5.000375205144181e-05 |
| Lymphangiectasis 0 1 4.050844161077556 5.103318852373029e-05 |
| Normochromic anemia 15 27 4.042215825729483 5.294846257219987e-05 |
| Pulmonary interstitial thickening 1 1 -4.03818254754899 5.3866928076296006e-05 |
| Interlobular septal thickening 1 1 -4.03818254754899 5.3866928076296006e-05 |
| First dorsal interossei muscle weakness 0 1 4.011362121058197 6.036943003095985e-05 |
| Anuria 1 1 -4.010867831954408 6.0495970602314486e-05 |
| Decreased mean corpuscular hemoglobin concentration 1 1 -4.010867831954408 6.0495970602314486e-05 |
| Placental abruption 1 1 -4.010867831954408 6.0495970602314486e-05 |
| Precocious puberty in females 1 1 -4.003804300208605 6.233193377225277e-05 |
| Overgrowth of external genitalia 1 1 -4.003804300208605 6.233193377225277e-05 |
| Entrapment neuropathy 1 1 -3.982577640234268 6.817184364793505e-05 |
| Small thenar eminence 1 1 -3.980806302933849 6.868189961917182e-05 |
| Tricuspid stenosis 0 1 3.9805262025553434 6.876288430723854e-05 |
| Primary congenital glaucoma 0 1 3.9805262025553434 6.876288430723854e-05 |
| Band keratopathy 1 1 -3.9754900242707554 7.023448812004673e-05 |
| Knee osteoarthritis 1 1 -3.9754900242707554 7.023448812004673e-05 |
| Ankle swelling 1 1 -3.9754900242707554 7.023448812004673e-05 |
| Synovial hypertrophy 1 1 -3.9754900242707554 7.023448812004673e-05 |
| Anisospondyly 0 1 3.945147056067372 7.975101999724288e-05 |
| Chronic pain 1 1 -3.934618405604655 8.332898138529998e-05 |
| Abnormal blood zinc concentration 0 1 3.9300659862711953 8.492255277747773e-05 |
| Ulnar deviation of the 2nd finger 0 1 3.929178026008473 8.523672045179786e-05 |
| Anoperineal fistula 1 1 -3.925706562423381 8.647552392115898e-05 |
| Anal fistula 1 1 -3.925706562423381 8.647552392115898e-05 |
| Abnormal blood folate concentration 1 1 -3.908747612253732 9.277582561129094e-05 |
| Glandular hypospadias 1 1 -3.9069604382516863 9.34644494474668e-05 |
| Blind vagina 1 1 -3.9069604382516863 9.34644494474668e-05 |
| Penoscrotal hypospadias 1 1 -3.9069604382516863 9.34644494474668e-05 |
| Impaired epinephrine induced platelet aggregation 0 1 3.8971491404128296 9.733168435488436e-05 |
| Absent axillary hair 0 1 3.8926910614112287 9.913836690933486e-05 |
| Persistent bleeding after trauma 1 1 -3.8908584885655806 9.98901791713358e-05 |
| Methemoglobinemia 0 1 3.888230626858957 0.0001009776558453 |
| Premature atrial contractions 1 1 -3.88548420307429 0.0001021261339761 |
| Erysipelas 0 1 3.8712594435975634 0.0001082744755316 |
| Dilatation of the bladder 1 1 -3.867544657767324 0.0001099367002082 |
| Megacystis 1 1 -3.867544657767324 0.0001099367002082 |
| Posterior helix pit 1 1 -3.845965685828172 0.0001200785681207 |
| Retinal flecks 1 1 -3.8423637040768743 0.0001218550846733 |
| Abnormal circulating inhibin level 0 1 3.8417017838585865 0.0001221842306686 |
| Abnormal temporal bone morphology 0 1 3.8417017838585865 0.0001221842306686 |
| Congenital adrenal hyperplasia 0 1 3.8417017838585865 0.0001221842306686 |
| Acute leukemia 33 63 3.838631149447273 0.0001237221251639 |
| Neonatal short limb short stature 1 1 -3.836056452804143 0.0001250256808997 |
| Pure red cell aplasia 16 23 3.8275138188376334 0.0001294441189618 |
| Red hair 0 1 3.8264345730412814 0.0001300126844947 |
| Parasomnia 0 1 3.815641040570667 0.0001358298440428 |
| Abnormal nasal mucus secretion 1 1 -3.7990168573475898 0.0001452712123546 |
| Persistence of hemoglobin f 16 24 3.788292792129468 0.0001516860259151 |
| Type 1 fibers relatively smaller than type 2 fibers 0 1 3.7524015318055 0.0001751486354784 |
| Abnormal blood carbon dioxide level 0 1 3.7524015318055 0.0001751486354784 |
| Intercostal muscle weakness 0 1 3.7524015318055 0.0001751486354784 |
| Dacryocystitis 1 1 -3.749977609740415 0.0001768503604822 |
| Left ventricular outflow tract obstruction 0 1 3.7433283978370406 0.0001815986379538 |
| Shortened pr interval 0 1 3.7433283978370406 0.0001815986379538 |
| Abnormality of the distal phalanx of the 5th finger 2 2 -3.7262458666132416 0.0001943528334211 |
| Erythroid hypoplasia 15 22 3.7129605962374734 0.0002048487905557 |
| Ambiguous genitalia female 0 1 3.712406315366896 0.0002052980616205 |
| Peripapillary chorioretinal atrophy 1 1 -3.699727928830288 0.0002158307242616 |
| Lichenification 0 1 3.697815297949969 0.0002174630239197 |
| Corneal stromal edema 1 1 -3.691475915489504 0.0002229565119131 |
| Reduced number of corneal endothelial cells 1 1 -3.691475915489504 0.0002229565119131 |
| Uveal ectropion 1 1 -3.691475915489504 0.0002229565119131 |
| Widened cerebellar subarachnoid space 1 1 -3.6896410078781776 0.0002245707272021 |
| Optic disc drusen 2 2 -3.682903577327986 0.0002305923973651 |
| Abnormal bowman capsule morphology 1 1 -3.6721888960353617 0.0002404818179568 |
| Aplastic hypoplastic lacrimal glands 0 1 3.661226524528551 0.0002510107000768 |
| Abnormal lacrimal gland morphology 0 1 3.661226524528551 0.0002510107000768 |
| Defective t cell proliferation 0 1 3.660309760321986 0.0002519105274774 |
| Onychogryposis of toenails 0 1 3.657558867176335 0.0002546287911351 |
| Palmoplantar blistering 0 1 3.657558867176335 0.0002546287911351 |
| Aplasia cutis congenita on trunk or limbs 0 1 3.657558867176335 0.0002546287911351 |
| Renal tubular epithelial necrosis 0 1 3.642872200347812 0.0002696127171359 |
| Orbital cyst 1 1 -3.641788807156548 0.0002707501532839 |
| Calcification of falx cerebri 1 1 -3.641788807156548 0.0002707501532839 |
| Usual interstitial pneumonia 2 2 -3.6327332463084954 0.0002804348874763 |
| Systolic heart murmur 2 2 -3.628607236927852 0.0002849543815353 |
| Granulomatosis 0 1 3.6198727361518457 0.0002947479466683 |
| Skin picking 0 1 3.616186968147928 0.0002989744697212 |
| Premature adrenarche 0 1 3.616186968147928 0.0002989744697212 |
| Limbal stem cell deficiency 1 1 -3.6066423896929303 0.0003101846793436 |
| Abnormality of foveal pigmentation 0 1 3.604197034024295 0.0003131194574468 |
| Recurrent thrombophlebitis 1 1 -3.595512110087074 0.0003237540664469 |
| Postprandial hyperglycemia 1 1 -3.5843666739467737 0.000337897113575 |
| Coronary artery stenosis 1 1 -3.562962054763152 0.000366693700585 |
| Arterial dissection 0 1 3.5616330584620703 0.0003685552456857 |
| Molluscoid pseudotumors 0 1 3.5616330584620703 0.0003685552456857 |
| Adult onset sensorineural hearing impairment 1 1 -3.559233787159243 0.0003719383330547 |
| Macular hyperpigmentation 0 1 3.5551369654907647 0.0003777822404376 |
| Abnormality of primary molar morphology 1 1 -3.5405669030736413 0.0003992683926816 |
| Increased theta frequency activity in eeg 0 1 3.5346878730917357 0.0004082570952603 |
| Hypercoagulability 0 1 3.533757183781268 0.0004096972781719 |
| Absent distal interphalangeal creases 1 1 -3.533088195778877 0.0004107354248006 |
| Abnormality of the middle phalanx of the 2nd finger 1 1 -3.533088195778877 0.0004107354248006 |
| Short middle phalanx of the 2nd finger 1 1 -3.533088195778877 0.0004107354248006 |
| Short middle phalanx of toe 1 1 -3.533088195778877 0.0004107354248006 |
| Absent phalangeal crease 1 1 -3.533088195778877 0.0004107354248006 |
| High output congestive heart failure 1 1 -3.5312174489681785 0.0004136515377117 |
| Single ventricle 0 1 3.5253763315058952 0.0004228815728373 |
| Decreased thyroid stimulating hormone level 1 1 -3.523730175298709 0.0004255173297571 |
| Mitten deformity 0 1 3.516054445333775 0.0004380111525605 |
| Subretinal fluid 0 1 3.5057883949880626 0.0004552570006353 |
| Tractional retinal detachment 0 1 3.5057883949880626 0.0004552570006353 |
| Rhegmatogenous retinal detachment 0 1 3.5057883949880626 0.0004552570006353 |
| Peripheral retinal avascularization 0 1 3.5057883949880626 0.0004552570006353 |
| Osteosarcoma 19 31 3.5049805114984767 0.0004566407084576 |
| Reduced c peptide level 0 1 3.499248908165935 0.0004665708122504 |
| Enlarged epiphyses 1 1 -3.49559161193329 0.000473012045941 |
| Deviation of the 5th toe 1 1 -3.49559161193329 0.000473012045941 |
| Clinodactyly of the 5th toe 1 1 -3.49559161193329 0.000473012045941 |
| Gastrointestinal eosinophilia 1 1 -3.490892409295192 0.0004814100763605 |
| Partial anomalous pulmonary venous return 0 1 3.4898979343433463 0.0004832050579974 |
| Ivory epiphyses of the phalanges of the hand 1 1 -3.4824270211815653 0.0004968906375251 |
| Knee pain 1 1 -3.4824270211815653 0.0004968906375251 |
| Overfolding of the superior helices 0 1 3.48240964515913 0.0004969228848934 |
| Snoring 0 1 3.48240964515913 0.0004969228848934 |
| Abnormal mandibular ramus morphology 0 1 3.48240964515913 0.0004969228848934 |
| Impaired neutrophil bactericidal activity 0 1 3.481473138971595 0.0004986637936554 |
| Absent palmar crease 0 1 3.471164666860431 0.000518206116979 |
| Macrocytic anemia 27 43 3.4704483155012604 0.0005195903286758 |
| Paroxysmal atrial fibrillation 1 1 -3.4664128456223504 0.000527452704357 |
| Congenital thrombocytopenia 0 1 3.4655365219017287 0.0005291746490925 |
| Prominence of the premaxilla 1 1 -3.465469855796633 0.0005293058597897 |
| Abnormality of the premaxilla 1 1 -3.465469855796633 0.0005293058597897 |
| Dermatochalasis 1 1 -3.464526756965502 0.0005311652963286 |
| Decreased lymphocyte proliferation in response to anti cd3 1 1 -3.464526756965502 0.0005311652963286 |
| Clinodactyly of the 4th finger 1 1 -3.464526756965502 0.0005311652963286 |
| Deviation of the 4th finger 1 1 -3.464526756965502 0.0005311652963286 |
| Clinodactyly of the 3rd finger 1 1 -3.464526756965502 0.0005311652963286 |
| Childhood onset truncal obesity 0 1 3.4505096557210897 0.0005595291515672 |
| Paraproteinemia 1 1 -3.447532306958882 0.0005657327425385 |
| Malignant genitourinary tract tumor 16 25 3.4305853470546643 0.0006022804747707 |
| Abnormal number of erythroid precursors 18 29 3.430287093896069 0.0006029429348419 |
| Adenocarcinoma of the colon 16 25 3.425221543863292 0.0006142982770298 |
| Hippocampal atrophy 1 1 -3.415334731176008 0.0006370367434658 |
| Immotile sperm 0 1 3.4118800579004027 0.0006451649425875 |
| Impaired collagen induced platelet aggregation 1 2 3.4111300697500155 0.0006469422204506 |
| Flank pain 1 2 3.4111300697500155 0.0006469422204506 |
| Delayed puberty 47 68 3.410541587634744 0.0006483399578858 |
| Nonprogressive encephalopathy 1 2 3.398485682293261 0.0006776000963317 |
| Thrombocytosis 23 37 3.3974814356274674 0.0006800920223435 |
| Digital flexor tenosynovitis 1 1 -3.39348168149511 0.000690101739432 |
| Interphalangeal joint erosions 1 1 -3.39348168149511 0.000690101739432 |
| Renal magnesium wasting 0 1 3.387290815265953 0.0007058652253268 |
| Renal potassium wasting 0 1 3.387290815265953 0.0007058652253268 |
| Psychic epileptic aura 1 1 -3.3801510756809896 0.0007244599645934 |
| Focal cognitive seizure with deja vu jamais vu 1 1 -3.3801510756809896 0.0007244599645934 |
| Focal autonomic seizure 1 1 -3.3801510756809896 0.0007244599645934 |
| Cryptophthalmos 1 1 -3.376338321595201 0.0007345753077601 |
| Lacrimal duct aplasia 1 1 -3.376338321595201 0.0007345753077601 |
| Hypoplasia of the bladder 1 1 -3.372523782257589 0.0007448265374554 |
| Increased serum pyruvate 24 41 3.3666020301610007 0.0007610042468699 |
| Lipid accumulation in hepatocytes 54 91 3.345044303195349 0.000822694279196 |
| Refractory anemia 0 1 3.339800508279194 0.0008383859063534 |
| Partial duplication of the phalanx of hand 15 25 3.331950780700033 0.0008623950705581 |
| Abnormal parotid gland morphology 1 2 3.328175167995839 0.0008741688253928 |
| Adenocarcinoma of the intestines 17 30 3.3128583494211625 0.0009234773822588 |
| Abnormal reticulocyte morphology 22 41 3.307708910545146 0.000940625249824 |
| Color vision test abnormality 0 1 3.29491360059861 0.0009845194475208 |
| Intestinal perforation 1 2 -3.2939332427749557 0.000987959593246 |
| Abnormal erythrocyte enzyme level 11 25 3.2765592320596326 0.0010508026918536 |
| Cor pulmonale 1 2 3.274413077207683 0.0010588170829997 |
| Oliguria 1 2 3.2701315534610025 0.0010749747916269 |
| Large cafe au lait macules with irregular margins 1 1 -3.2698159882920885 0.0010761746573759 |
| Decreased vigilance 1 1 -3.2698159882920885 0.0010761746573759 |
| Glucagonoma 1 1 -3.2698159882920885 0.0010761746573759 |
| Insulinoma 1 1 -3.2698159882920885 0.0010761746573759 |
| Pancreatic islet cell adenoma 1 1 -3.2698159882920885 0.0010761746573759 |
| Hypergastrinemia 1 1 -3.2698159882920885 0.0010761746573759 |
| Abnormal circulating aldosterone 1 1 -3.2698159882920885 0.0010761746573759 |
| Non convulsive status epilepticus without coma 1 1 -3.2698159882920885 0.0010761746573759 |
| Abnormal right ventricular function 4 6 -3.26786599795408 0.0010836165794545 |
| Linear arrays of macular hyperkeratoses in flexural areas 1 1 -3.265951206072483 0.0010909704621804 |
| Distal symphalangism 1 1 -3.261117646398133 0.0011097398649955 |
| Euryblepharon 0 1 3.251711176998497 0.0011471252409389 |
| Abnormal length of corpus callosum 1 2 3.240959554051985 0.0011912808485425 |
| Cervical c2 c3 vertebral fusion 1 1 -3.2398158183545336 0.0011960693049113 |
| Absent thumb 19 32 3.235597905176911 0.0012138824841931 |
| Papillary cystadenoma of the epididymis 2 2 -3.234581547859809 0.0012182112676333 |
| Temporal optic disc pallor 1 2 3.219445203747992 0.0012843890551634 |
| Abnormality of von willebrand factor 1 1 -3.2194301182522125 0.0012844566349037 |
| Lipemia retinalis 1 1 -3.2194301182522125 0.0012844566349037 |
| Neoplasm of the colon 25 51 3.2148162815564816 0.0013052803220463 |
| Equinus calcaneus 1 2 3.197876058758085 0.0013844376885465 |
| Increased mean corpuscular volume 18 29 3.19439755913927 0.0014012300545469 |
| Congenital craniofacial dysostosis 1 2 3.1883682168120173 0.0014307821131915 |
| Upper eyelid coloboma 1 2 3.1883682168120173 0.0014307821131915 |
| Increased body mass index 0 1 3.1879441771600834 0.0014328819627795 |
| Helicobacter pylori infection 1 1 -3.1872919388617413 0.0014361174009036 |
| Congenital localized absence of skin 1 2 3.184908174793583 0.0014479994655018 |
| Aplasia cutis congenita over the scalp vertex 1 2 3.184908174793583 0.0014479994655018 |
| Occipital cortical atrophy 0 1 3.1753269952141303 0.0014966773869966 |
| Abnormality of the thenar eminence 11 22 3.170609858627606 0.0015211929949581 |
| Abnormal circulating carbohydrate concentration 28 49 3.166891542137221 0.0015407777144331 |
| Increased hemoglobin 1 1 -3.1589441780502794 0.0015834181604335 |
| Increased hematocrit 1 1 -3.1589441780502794 0.0015834181604335 |
| Lip pit 2 2 -3.1474750424797846 0.0016468716430555 |
| Intraventricular hemorrhage 2 2 -3.1413423944953345 0.0016817529611166 |
| Lupus anticoagulant 1 1 -3.1363910856203625 0.0017104095307605 |
| Discoid lupus rash 1 1 -3.1363910856203625 0.0017104095307605 |
| Reticulocytopenia 15 25 3.1354705613670437 0.0017157864804582 |
| Absent nares 0 1 3.1275998968450662 0.0017623991651443 |
| Post partum hemorrhage 0 1 3.1178265054981398 0.0018219001825581 |
| Uterine prolapse 0 1 3.115870473062378 0.0018340281145001 |
| Rectal polyposis 1 1 -3.115744447734408 0.0018348120437465 |
| Radial deviation of the 2nd finger 0 2 3.109621827185353 0.0018732701515424 |
| Nonimmune hydrops fetalis 24 34 3.108953558639721 0.0018775122749059 |
| Fragmented epiphyses 0 1 3.1051042150153094 0.0019021199321314 |
| Abnormal circulating renin 0 1 3.096285274985802 0.0019596173232683 |
| Increased circulating renin level 0 1 3.096285274985802 0.0019596173232683 |
| Hypochloremia 0 1 3.096285274985802 0.0019596173232683 |
| Fetal polyuria 0 1 3.096285274985802 0.0019596173232683 |
| Multiple epiphyseal dysplasia 1 1 -3.0950453527389508 0.0019678280487234 |
| Supernumerary vertebrae 1 1 -3.0861581917974665 0.0020276091785391 |
| Laryngeal hypoplasia 0 1 3.083530594310376 0.0020456007579383 |
| Increased megakaryocyte count 2 3 3.080488328972029 0.0020666145388836 |
| Conjunctival icterus 1 1 -3.074293550897597 0.0021100170223671 |
| Abnormal haptoglobin level 1 1 -3.074293550897597 0.0021100170223671 |
| Biconvex vertebral bodies 1 1 -3.072314430871989 0.0021240585459336 |
| Branchial cyst 1 2 3.069052159322645 0.0021473909578124 |
| Flexion contracture of thumb 0 1 3.063870505757007 0.0021849346358076 |
| Recurrent spontaneous abortion 1 1 -3.0634024410413487 0.0021883554584847 |
| Pancreatic calcification 1 1 -3.0634024410413487 0.0021883554584847 |
| Abnormal energy expenditure 1 1 -3.0634024410413487 0.0021883554584847 |
| Tooth abscess 1 1 -3.0634024410413487 0.0021883554584847 |
| Encephalomalacia 1 1 -3.0634024410413487 0.0021883554584847 |
| Low serum calcitriol 1 1 -3.0634024410413487 0.0021883554584847 |
| Stapes ankylosis 1 1 -3.0634024410413487 0.0021883554584847 |
| Neoplasm of the skeletal system 35 57 3.0593248963467645 0.0022183642679334 |
| Focal hemiclonic seizure 2 2 -3.057651830122304 0.0022307859981061 |
| Alopecia universalis 1 2 3.051493129316124 0.0022770625975589 |
| Hypovolemic shock 1 2 3.0514931293160945 0.0022770625975592 |
| 2 3 finger syndactyly 1 2 3.0514931293160945 0.0022770625975592 |
| Enlarged interphalangeal joints 2 2 -3.050564638790516 0.0022841150858026 |
| Bicoronal synostosis 1 1 -3.043563082333704 0.0023379441871567 |
| Underfolded helix 1 1 -3.043563082333704 0.0023379441871567 |
| Abnormal megakaryocyte morphology 4 5 3.0392196026120457 0.0023719188680808 |
| Abnormal platelet volume 6 9 3.038636903268876 0.0023765109690532 |
| Recurrent aspergillus infections 0 1 3.0372570316239944 0.0023874178533265 |
| Congenital stationary night blindness 0 1 3.0303436309771365 0.0024427563987607 |
| Anterior open bite malocclusion 1 2 3.0197957231518338 0.0025294522444294 |
| Uric acid nephrolithiasis 1 3 3.0076478366274704 0.0026327803427363 |
| Giant platelets 1 2 3.0039029195716576 0.0026654035944977 |
| Overtubulated long bones 2 3 3.003153838974137 0.0026719732674802 |
| Sclerosis of finger phalanx 2 2 -3.00256362810734 0.0026771600229498 |
| Sprengel anomaly 25 38 2.9998199588454977 0.0027013923245111 |
| Aortic valve calcification 2 3 2.9907488408160985 0.0027829428247247 |
| Abnormal 4th finger morphology 2 2 -2.9856067139898177 0.0028301637072329 |
| Hyperglutaminemia 2 2 -2.977562130597458 0.0029055074863415 |
| Total anomalous pulmonary venous return 2 3 2.977497213029493 0.0029061228668161 |
| Punctate opacification of the cornea 1 1 -2.9757462500953427 0.0029227659107724 |
| Localized osteoporosis 1 2 2.973802644253208 0.0029413418766011 |
| Hip pain 4 5 2.962671244219234 0.0030498211273926 |
| Large placenta 2 3 2.958412426353251 0.0030922809144322 |
| Short umbilical cord 2 3 2.9509330252608104 0.0031681560629552 |
| Anemia of inadequate production 45 92 2.946627148687178 0.0032126031134944 |
| Impaired adp induced platelet aggregation 1 3 2.942405692641143 0.0032567296461483 |
| Calcium nephrolithiasis 0 1 2.9399559843597203 0.0032825887424152 |
| Calcium oxalate nephrolithiasis 0 1 2.9399559843597203 0.0032825887424152 |
| Inflexible adherence to routines or rituals 0 1 2.9369598519892617 0.0033144701039313 |
| Myelodysplasia 23 64 2.9114114098292974 0.0035979992172865 |
| Spastic diplegia 18 29 2.891532147659802 0.0038336836874597 |
| Hypereosinophilia 1 1 -2.885115073531526 0.003912706150559 |
| Multiple prenatal fractures 4 8 2.8843473989804744 0.0039222580263786 |
| Congenital bilateral hip dislocation 1 2 2.8810731345490828 0.003963236676135 |
| Aplasia hypoplasia of the uterus 14 20 2.8728443520529066 0.0040679448014495 |
| Abnormal lacrimal punctum morphology 1 1 -2.8709263811077186 0.0040927082838884 |
| Absent lacrimal punctum 1 1 -2.8709263811077186 0.0040927082838884 |
| Reticulated skin pigmentation 1 2 2.8577347767372903 0.0042667686071737 |
| Acute rhabdomyolysis 1 1 -2.855696956478283 0.0042942479109182 |
| Cutaneous amyloidosis 0 1 2.855667221113236 0.0042946500672549 |
| Shortening of all middle phalanges of the fingers 0 1 2.8516328523115497 0.0043495306369107 |
| Silver gray hair 1 2 -2.849777510604553 0.0043749821150238 |
| Hyperautofluorescent macular lesion 1 1 -2.8465457355240207 0.0044196380067704 |
| Pulmonary artery hypoplasia 0 1 2.8405286334527107 0.0045038829474086 |
| Increased aspartate family amino acid level in urine 0 1 2.8405286334527107 0.0045038829474086 |
| Protrusio acetabuli 2 3 2.8404916598314567 0.0045044050790274 |
| Prenatal maternal abnormality 13 28 -2.830303732412642 0.004650383346143 |
| Developmental cataract 47 76 2.8253711000247588 0.0047225885119293 |
| Decreased specific antibody response to polysaccharide vaccine 1 1 -2.823112918789462 0.0047559817581617 |
| Gonadotropin deficiency 1 1 -2.8210721261810394 0.0047863440153763 |
| Parathyroid dysgenesis 1 1 -2.8210721261810394 0.0047863440153763 |
| Abnormality of the subungual region 0 2 2.8090370474122577 0.0049689928127656 |
| Retinal nonattachment 1 1 -2.8047275586104994 0.0050359125806287 |
| Limbal dermoid 1 1 -2.8047275586104994 0.0050359125806287 |
| Intestinal carcinoid 2 2 -2.8012838644318903 0.0050899724210724 |
| Duplication of thumb phalanx 15 32 2.801057894403295 0.0050935380194503 |
| Shortening of all phalanges of the toes 1 1 -2.8006363469586817 0.0051001956838598 |
| Short term memory impairment 1 1 -2.799613226783181 0.0051163869467236 |
| Lagopthalmos 2 3 2.798292207901397 0.0051373612825176 |
| Fasting hypoglycemia 2 3 2.794061159900302 0.0052050633491205 |
| Moderately short stature 2 2 -2.787565199965212 0.0053105766684833 |
| Photosensitive tonic clonic seizure 2 2 -2.7820713024183243 0.0054013171894053 |
| Eczematoid dermatitis 0 1 2.78174308434231 0.0054067822932033 |
| Decreased patellar reflex 2 3 2.7745722937092427 0.0055274347512912 |
| Uncombable hair 1 2 2.768293924399257 0.0056350609868345 |
| Nonspherocytic hemolytic anemia 2 3 2.767783520492252 0.0056438930789743 |
| Cardiac rhabdomyoma 1 2 -2.760597194603704 0.0057695787464728 |
| Dumbbell shaped long bone 1 1 -2.758584079070497 0.0058052369181624 |
| Increased fibular diameter 1 1 -2.758584079070497 0.0058052369181624 |
| Posterior rib cupping 1 1 -2.758584079070497 0.0058052369181624 |
| Hypoplastic anemia 0 2 2.757715154576843 0.0058206894124603 |
| Persistent head lag 6 7 2.75752268450643 0.0058241172111308 |
| Normocytic anemia 7 12 2.750948895134771 0.0059422912953097 |
| Decreased csf homovanillic acid 1 1 -2.748294886135044 0.0059906103943583 |
| Focal cortical dysplasia type ii 0 2 2.748268563893511 0.0059910913870009 |
| Aplasia hypoplasia of the lens 3 3 -2.732272548102996 0.0062899084743388 |
| Increased serum lactate 77 146 2.729749297032832 0.0063382506067617 |
| Irritability 53 103 2.729157271061576 0.0063496413568575 |
| Cephalohematoma 2 2 -2.720471918390067 0.0065188808511358 |
| Agenesis of permanent teeth 8 10 -2.7199026816665195 0.0065301131745638 |
| Abnormality of the 5th toe 11 25 -2.7192146322807957 0.0065437131739294 |
| Spotty hyperpigmentation 0 2 2.7111742022239644 0.0067045392166473 |
| Myoglobinuria 7 13 2.710423009210432 0.006719744711769 |
| Hypoautofluorescent retinal lesion 1 1 -2.710113355116852 0.0067260216838431 |
| Basal ganglia cysts 5 7 2.707820814372407 0.0067726577726445 |
| Asymmetry of spinal facet joints 1 2 -2.704386648624749 0.0068430612290457 |
| Absence of the sacrum 1 2 -2.704386648624749 0.0068430612290457 |
| Pulmonary fibrosis 15 24 2.7024048007184867 0.0068839894748888 |
| Vertebral compression fracture 12 19 2.702204011164053 0.0068881483368652 |
| Folliculitis 1 1 -2.6997637886127444 0.0069388722632077 |
| Abnormal csf pyruvate family amino acid concentration 3 5 2.69067527910076 0.0071307564972629 |
| Decreased calvarial ossification 3 4 2.687835783323753 0.0071916754816734 |
| Posterior blepharitis 0 1 2.6866508098532207 0.0072172359361313 |
| Hyperpigmentation in sun exposed areas 0 1 2.6866508098532207 0.0072172359361313 |
| Long ear 1 3 2.68292375874416 0.0072981626090553 |
| Spontaneous pneumothorax 1 1 -2.6769492902736425 0.0074295878746903 |
| Microangiopathic hemolytic anemia 2 2 -2.6751282228515683 0.0074700673834362 |
| Pallor 43 66 2.6750195312499474 0.0074724896726658 |
| Multiple exostoses 0 1 2.674305787528554 0.0074884135956951 |
| Impaired renal concentrating ability 1 1 -2.67383337142574 0.0074989701277199 |
| Retrocerebellar cyst 2 2 -2.671415687458444 0.0075532044808017 |
| Macular hypoplasia 2 3 -2.6707924859959014 0.0075672412473177 |
| Supernumerary cusp 3 3 -2.670723356069965 0.0075687997451523 |
| Shagreen patch 0 2 2.6604634926196358 0.0078033186220729 |
| Arteriovenous fistula 2 2 -2.6556188106889063 0.007916304187399 |
| Cerebral arteriovenous malformation 2 2 -2.6556188106889063 0.007916304187399 |
| Peripheral arteriovenous fistula 2 2 -2.6556188106889063 0.007916304187399 |
| Abnormal number of permanent teeth 8 11 -2.6554313447978832 0.0079207054825551 |
| Elongated superior cerebellar peduncle 1 2 2.65129282410222 0.0080184289242219 |
| Decreased light and dark adapted electroretinogram amplitude 2 3 2.6507196504019683 0.0080320481234814 |
| Eczema 30 50 2.648172887737821 0.00809281262707 |
| Median cleft palate 1 2 2.634715923187995 0.0084207725894414 |
| Retinal perforation 1 2 2.629183503633464 0.0085590161540924 |
| Elevated systolic blood pressure 1 2 2.626416021265107 0.0086289282045264 |
| Elevated diastolic blood pressure 1 2 2.626416021265107 0.0086289282045264 |
| Elevated mean arterial pressure 1 2 2.626416021265107 0.0086289282045264 |
| Morning myoclonic jerks 1 2 2.621801665182429 0.0087466316007589 |
| Abnormal rapid eye movement sleep 2 2 -2.621132990245981 0.0087638067122397 |
| Wormian bones 11 23 2.6209992254259458 0.0087672461157719 |
| Abnormality of venous physiology 2 2 -2.616461744108744 0.0088846319640927 |
| Budd chiari syndrome 2 2 -2.616461744108744 0.0088846319640927 |
| Duplication of phalanx of hallux 4 6 -2.615550354856847 0.0089083784631127 |
| Spondylometaphyseal dysplasia 2 2 -2.614592510907689 0.0089333964350326 |
| Abnormal choroid morphology 32 64 -2.6130371399692702 0.0089741549431541 |
| Compensatory head posture 1 1 -2.612316062857269 0.0089931070545534 |
| Abnormal sweat homeostasis 0 1 2.6019500685311923 0.0092695347099411 |
| Abnormal gallbladder morphology 22 42 2.6016053631599605 0.0092788557581424 |
| Calvarial hyperostosis 3 6 2.601021557672601 0.009294661301554 |
| Central opacification of the cornea 2 3 -2.594109609508598 0.0094836247153697 |
| Concave nasal ridge 3 7 -2.5939837253290143 0.0094870977608509 |
| Spastic hyperactive bladder 4 6 2.5911163412827016 0.00956651442171 |
| Hypoplastic iris stroma 1 2 -2.585212514436026 0.0097318993090902 |
| Thinning of descemet membrane 1 2 -2.585212514436026 0.0097318993090902 |
| Anterior synechiae of the anterior chamber 2 3 -2.581699538337295 0.0098315138247511 |
| Abnormal corneal endothelium morphology 2 3 -2.581699538337295 0.0098315138247511 |
| Abnormal descemet membrane morphology 2 3 -2.581699538337295 0.0098315138247511 |
| Opisthotonus 18 30 2.5805999652132363 0.0098628796592263 |
| Fetal ultrasound soft marker 19 41 -2.5793155705355275 0.0098996304893037 |
| Short thumb 24 58 2.576171875377573 0.0099900973686879 |
| Leukoencephalopathy 71 133 2.575708562599809 0.0100034923092249 |
| Abnormal erythrocyte morphology 133 288 2.5755524555766094 0.0100080091563492 |
| Caesarian section 3 4 2.5721540711265662 0.01010679027496 |
| Abnormality of facial adipose tissue 3 4 2.572154071126536 0.0101067902749609 |
| Abnormality of acid base homeostasis 125 248 2.569863625352587 0.0101738556817221 |
| Short long bone 41 82 -2.569455257288739 0.0101858544349788 |
| Maternal diabetes 4 5 -2.569138024754221 0.0101951841186369 |
| Short thorax 11 17 -2.565934899905903 0.0102898138226563 |
| Widely spaced primary teeth 1 1 -2.560879979538629 0.0104407418534249 |
| Bronchitis 8 17 -2.5532764668364667 0.010671475289238 |
| Abnormality of the gallbladder 29 52 2.552278489736731 0.0107020937395723 |
| Hyperextensibility of the knee 7 9 -2.5496610254914134 0.0107827703056708 |
| Genu recurvatum 7 9 -2.5496610254914134 0.0107827703056708 |
| Elevated creatine kinase after exercise 3 5 2.545082462053557 0.0109251934632874 |
| Delayed closure of the anterior fontanelle 11 14 2.54319860402548 0.010984277514463 |
| Premature osteoarthritis 1 2 2.5429969493384577 0.0109906188682082 |
| Thoracic kyphoscoliosis 4 6 2.537723380597093 0.0111576136684439 |
| Focal clonic seizure 4 4 -2.5376274198766136 0.0111606731619366 |
| Status epilepticus without prominent motor symptoms 3 3 -2.537387221940927 0.0111683346043762 |
| Duodenal ulcer 3 3 -2.537387221940927 0.0111683346043762 |
| Prolonged bleeding time 5 10 2.529513977545745 0.0114220624392376 |
| Decreased head circumference 315 720 2.529507764091526 0.0114222646819008 |
| Broad metatarsal 2 3 -2.5244675019626954 0.0115873718008134 |
| Basilar impression 1 1 -2.522889265693391 0.0116395046957014 |
| Abnormal mean corpuscular volume 18 33 2.522073400173772 0.0116665361806433 |
| Postaxial polydactyly 29 50 -2.5195966935730567 0.0117489365831895 |
| Abnormal circulating metabolite concentration 240 532 2.5191643297020083 0.0117633742008169 |
| Protracted diarrhea 1 3 -2.518910220399037 0.0117718668311375 |
| Abnormal bowel sounds 1 3 -2.518910220399037 0.0117718668311375 |
| Reflex seizure 3 3 -2.5187958542095887 0.0117756908572623 |
| Abnormal finger flexion creases 2 2 -2.518702432840761 0.0117788153755791 |
| Dilation of virchow robin spaces 1 2 2.5178223402824296 0.0118082865656334 |
| Y shaped metacarpals 5 6 -2.517405897922484 0.0118222545282136 |
| Hypoplastic iliac wing 6 8 -2.514599024000858 0.0119167831689355 |
| Eyelid apraxia 2 2 -2.5139736208019285 0.0119379362894909 |
| Small forehead 3 3 -2.510815407492182 0.0120452664285446 |
| Monotonic speech 4 7 2.5086459977566573 0.0121194873436234 |
| Hand apraxia 1 2 2.5075463368399027 0.012157264057413 |
| Common atrium 3 3 -2.507266090047734 0.0121669080608877 |
| Hyperconvex fingernails 5 6 2.501816438857304 0.0123557968799863 |
| Onset 253 618 2.49374326692716 0.0126403934158827 |
| Intestinal bleeding 1 1 -2.4932227770234685 0.0126589393467799 |
| Soft tissue neoplasm 1 1 -2.4932227770234685 0.0126589393467799 |
| Abnormal pr interval 0 2 2.4912219783887326 0.0127304556201806 |
| Decreased size of nerve terminals 0 2 2.48963123193812 0.012787569976479 |
| Prominent coccyx 1 1 -2.4879142862587225 0.0128494697540042 |
| Abnormal coccyx morphology 1 1 -2.4879142862587225 0.0128494697540042 |
| Abnormality of olfactory lobe morphology 2 2 -2.4864940766645134 0.0129008717242999 |
| Ridged fingernail 2 2 -2.4845956349449407 0.0129698665485471 |
| Progressive neurologic deterioration 16 27 2.48283239470516 0.0130342399227738 |
| Lack of t cell function 0 2 2.480681977858267 0.0131131309312371 |
| Hypermagnesiuria 1 1 -2.480476841757751 0.0131206786488604 |
| Skewfoot 1 1 -2.4772873799151176 0.0132385259877363 |
| Abnormality of the abdominal organs 244 547 2.4756699554129544 0.0132986450075436 |
| Coombs positive hemolytic anemia 0 2 2.47027446241805 0.0135009422944525 |
| Abnormal proportion of double negative alpha beta regulatory t cell 0 2 2.47027446241805 0.0135009422944525 |
| Increased b cell count 0 2 2.47027446241805 0.0135009422944525 |
| Elevated proportion of cd4 negative cd8 negative alpha beta regulatory t cells 0 2 2.47027446241805 0.0135009422944525 |
| Hypertonia 218 596 2.468906993305529 0.0135526437952617 |
| Abnormal coronary sinus morphology 2 3 -2.4653938558770485 0.0136862718762402 |
| Open operculum 1 2 2.462572431209112 0.0137944307393795 |
| Secondary amenorrhea 11 20 2.456591113622871 0.0140262228932825 |
| Recurrent fractures 22 44 2.453374540124628 0.0141522897550685 |
| Decreased plasma carnitine 11 13 2.452205237905309 0.0141983652971844 |
| Sex reversal 1 1 -2.451728757060818 0.014217178617347 |
| Prominent calcaneus 5 6 -2.4512093273629216 0.0142377127795096 |
| Orthostatic hypotension due to autonomic dysfunction 7 10 2.4507176686130405 0.0142571731972198 |
| Loss of subcutaneous adipose tissue in limbs 3 4 2.4500827514770944 0.0142823386625827 |
| Cardiac valve calcification 3 4 2.450082751477077 0.0142823386625834 |
| Mitral valve calcification 3 4 2.450082751477077 0.0142823386625834 |
| Osteolytic defects of the distal phalanges of the hand 3 4 2.450082751477072 0.0142823386625836 |
| Aplasia hypoplasia of the thumb 27 68 2.4495292342863184 0.014304309737676 |
| Trigonocephaly 9 16 2.4491202368326466 0.0143205634572975 |
| Absent nipple 0 2 2.446268433301449 0.0144343487699809 |
| Abnormal basophil count 1 1 -2.4442597709794045 0.0145149710862453 |
| Reduced systolic function 2 4 2.4394817101713597 0.0147083471994817 |
| Increased intervertebral space 2 2 -2.437950468870665 0.0147707977493296 |
| Ankyloglossia 6 8 2.4358904869523377 0.014855181199721 |
| Progressive visual field defects 1 2 2.435295895486062 0.014879616435548 |
| Ganglioneuroblastoma 1 1 -2.4335785087073925 0.0149503928706007 |
| Ganglioneuroma 1 1 -2.4335785087073925 0.0149503928706007 |
| Upper motor neuron dysfunction 214 611 2.433519801661953 0.0149528175217228 |
| Slowed slurred speech 2 2 -2.432221181458012 0.0150065403047694 |
| Decreased activity of mitochondrial complex i 28 45 2.430966153477522 0.0150586212024572 |
| Narrow foramen obturatorium 0 1 2.430133937798012 0.0150932440453765 |
| Anterior chamber synechiae 3 4 -2.4294862358848284 0.0151202390216302 |
| Focal motor status epilepticus 2 4 -2.4271728948930207 0.0152170021073403 |
| Low anterior hairline 46 73 2.4254894549629844 0.0152877598732203 |
| Increased vldl cholesterol concentration 2 2 -2.42457613755472 0.0153262691920637 |
| Hypoplastic helices 1 2 2.4173823694747902 0.0156325858025918 |
| Cystinuria 1 2 2.4173823694747902 0.0156325858025918 |
| Bone marrow hypocellularity 21 33 2.4165964264452278 0.0156663761169975 |
| Abnormal vertebral segmentation and fusion 0 2 2.415582533219096 0.0157100616740923 |
| Choroideremia 2 2 -2.404475280657707 0.0161957015024976 |
| Abnormal delivery 16 30 2.40068579965232 0.0163643807938456 |
| Single naris 2 3 2.398773708219672 0.0164500771956872 |
| Abnormal reflex 161 575 2.396890527383624 0.0165348629448869 |
| Vitreous floaters 2 3 2.393471518580165 0.0166897770577236 |
| Absent toenail 5 9 2.391884075556161 0.0167621357409557 |
| Low apgar score 3 7 2.390732940787359 0.0168147787899812 |
| Delayed menarche 5 6 2.389403482591839 0.0168757573747129 |
| Abdominal pain 60 124 2.389131142873678 0.0168882727732218 |
| Abnormality of the mitochondrion 49 131 2.381317742614179 0.0172508249047331 |
| Unilateral cleft lip 3 3 -2.3775795117660743 0.0174266854316631 |
| Elbow ankylosis 1 2 2.3738732721226814 0.0176025908454731 |
| Humeroradial synostosis 1 2 2.3738732721226814 0.0176025908454731 |
| Polysplenia 5 9 -2.370564110782712 0.0177609633787536 |
| Nasal congestion 4 6 -2.369045607867818 0.0178340541243327 |
| Abnormal perifollicular morphology 1 1 -2.368134960193136 0.017878013015987 |
| Slender toe 1 2 -2.3633859932658807 0.0181087974375295 |
| Neoplasm of the thymus 2 2 -2.3622058175070886 0.0181665533267794 |
| Thrombophlebitis 2 2 -2.3622058175070886 0.0181665533267794 |
| Subcutaneous lipoma 2 2 -2.3622058175070886 0.0181665533267794 |
| Generalized hypotonia 245 558 2.3613712218571723 0.0182074943932846 |
| Abnormality of glycolipid metabolism 6 8 2.3602895148453977 0.0182606776963569 |
| Aplasia hypoplasia of the phalanges of the hallux 2 2 -2.3583528308512034 0.0183562366784992 |
| Upper limb pain 0 1 2.357951769896255 0.0183760802671515 |
| Intervertebral space narrowing 2 2 -2.357389315571071 0.0184039408654839 |
| Premature rupture of membranes 4 6 2.3553483830152824 0.01850534709031 |
| Narrow nasal bridge 6 12 -2.3544436576399583 0.0185504556767044 |
| Fibular aplasia 2 3 2.352725945913457 0.0186363636622823 |
| Thickened nuchal skin fold 14 30 -2.351498261850185 0.0186979769807167 |
| Abnormal incisor morphology 14 38 -2.35000879779768 0.0187729673446708 |
| Wide pubic symphysis 1 2 -2.349307638573806 0.0188083597361918 |
| Abnormal pulse 3 3 -2.3486893561958517 0.0188396171635785 |
| Abnormal coronary artery morphology 10 17 -2.346505792687164 0.0189503716387571 |
| Postaxial hand polydactyly 20 32 -2.343975193815152 0.0190794403134355 |
| Palate fistula 1 1 -2.3433309485060847 0.0191124213726783 |
| Kinked brainstem 1 1 -2.333605848147453 0.0196163700938587 |
| Meningoencephalocele 1 1 -2.333605848147453 0.0196163700938587 |
| Anal fissure 2 2 -2.3323001924938733 0.0196849044161777 |
| Chronic hemolytic anemia 1 2 2.330167670469517 0.0197972909667281 |
| Abnormality of the phalanges of the hallux 9 12 -2.329929115082613 0.0198098979062126 |
| Chronic myelogenous leukemia 1 1 -2.328198351436885 0.0199015736902814 |
| Hypoplasia of the uterus 7 11 2.3258375739916484 0.020027217329906 |
| Left bundle branch block 0 1 2.3248635473930945 0.0200792577027595 |
| Soft doughy skin 1 3 2.3242066440307885 0.020114421390057 |
| Cherry red spot of the macula 8 10 2.322350860265668 0.020214051018931 |
| Abnormal circulating carboxylic acid concentration 70 129 2.3216172038674943 0.0202535567052857 |
| Abnormal enzyme coenzyme activity 133 274 2.317894293966311 0.0204550666398484 |
| Osteolysis 16 39 2.317655859701147 0.0204680317466792 |
| Dolichocephaly 39 77 -2.3157149834123265 0.0205738357658318 |
| Drusen 2 3 -2.309365842544594 0.0209232887940884 |
| Abnormality of the kidney 226 553 2.307285953268647 0.0210388840758992 |
| Hypoplastic heart 5 11 -2.306260368387917 0.0210960881987247 |
| Hemothorax 2 2 -2.3003516241899087 0.0214283071535823 |
| Dysgenesis of the cerebellar vermis 1 2 2.29869340576123 0.0215223552494379 |
| Pancreatic endocrine tumor 1 2 -2.298109699570003 0.0215555463444867 |
| Parathyroid hyperplasia 1 2 -2.298109699570003 0.0215555463444867 |
| Palpebral edema 7 14 -2.2957216297325718 0.0216918029069641 |
| Impaired lymphocyte transformation with phytohemagglutinin 1 2 -2.2923876876045566 0.0218832818679146 |
| Postaxial foot polydactyly 15 23 -2.2897829532937304 0.0220339018263522 |
| Deviation of the thumb 10 21 2.2881560261121643 0.0221284365111888 |
| Osteopenia 56 102 2.288053795996797 0.022134388485089 |
| Nuchal rigidity 2 2 -2.2877336619549555 0.022153036125093 |
| Delayed cranial suture closure 21 39 2.2873340133552884 0.0221763346210313 |
| Abnormality of corneal stroma 12 31 -2.285700799155749 0.0222717684814444 |
| Feeding difficulties 228 542 2.283577284469414 0.0223963860418059 |
| Abnormal number of granulocyte precursors 1 3 2.2813200423060835 0.0225295155840388 |
| Atrioventricular canal defect 10 21 -2.279118256702378 0.022660036535167 |
| Triphalangeal thumb 13 35 2.2761610596980835 0.0228363716255644 |
| Urethral stenosis 11 20 2.2744977246225 0.0229360777551121 |
| Increased fecal porphyrin 1 2 2.2738252231392324 0.0229764970730881 |
| Abnormal stool composition 1 2 2.2738252231392324 0.0229764970730881 |
| Severe photosensitivity 1 2 2.2738252231392324 0.0229764970730881 |
| Multiple enchondromatosis 5 6 2.272806565904887 0.0230378392011831 |
| Abnormal midbrain morphology 11 22 -2.269119987407871 0.0232610302151967 |
| Crossed fused renal ectopia 1 2 -2.2667303876372658 0.0234067008978859 |
| Capillary hemangioma 14 20 -2.2663391487714115 0.0234306262111196 |
| Reduced factor xi activity 5 7 -2.2652663058837827 0.0234963423903558 |
| Biparietal narrowing 12 25 -2.262335859316905 0.0236766604978133 |
| Congenital hepatic fibrosis 6 15 -2.2619207420177974 0.0237023005990728 |
| Abnormal calcification of the carpal bones 1 2 -2.260684121132003 0.0237788244456798 |
| Pediatric onset 158 344 2.2565108405399457 0.0240386571688517 |
| Abnormality of the peritoneum 17 26 2.2523893707401497 0.0242976768437563 |
| Orthokeratosis 1 1 -2.2510524934880527 0.0243822128148192 |
| Sarcoma 31 88 2.249158791509512 0.0245023951998644 |
| Increased circulating interleukin 6 1 1 -2.247778031270685 0.0245903473919568 |
| Abnormality of cytokine secretion 1 1 -2.247778031270685 0.0245903473919568 |
| Abnormality of tumor necrosis factor secretion 1 1 -2.247778031270685 0.0245903473919568 |
| Paroxysmal involuntary eye movements 12 25 2.247281864544449 0.0246220191467401 |
| Prolinuria 0 1 2.244345465903298 0.0248101823611861 |
| Abnormal morphology of the limbic system 10 25 -2.2443246088679105 0.0248115233135588 |
| Partial duplication of the distal phalanges of the hand 1 2 -2.2433817535724385 0.0248722074953136 |
| Duplication of the distal phalanx of the thumb 1 2 -2.2433817535724385 0.0248722074953136 |
| Arteriovenous malformation 10 19 -2.24310102193814 0.0248903007983829 |
| Asymmetric growth 16 26 -2.2370904613370266 0.0252804282680405 |
| Subarachnoid hemorrhage 6 7 -2.2367549851258306 0.0253023581039437 |
| Absent earlobe 7 8 -2.236086782842145 0.0253460870596313 |
| Second degree atrioventricular block 0 2 2.235017102885011 0.0254162259462271 |
| Hydrops fetalis 28 62 2.232114702170433 0.0256073829755021 |
| Abnormal upper motor neuron morphology 7 13 2.2320522377448397 0.0256115106226375 |
| Barrett esophagus 1 3 2.231530065834755 0.0256460382460852 |
| Abnormality of the phalanges of the toes 23 40 -2.230975999927424 0.0256827188200752 |
| Gaze evoked horizontal nystagmus 2 2 -2.228283554125869 0.0258616123197685 |
| Internally nucleated skeletal muscle fibers 2 3 -2.226052245901216 0.0260106820793883 |
| Hypoplasia of the vagina 1 2 2.2239046290602533 0.0261548615638349 |
| Ovarian gonadoblastoma 1 2 2.2239046290602533 0.0261548615638349 |
| Female external genitalia in individual with 46 xy karyotype 1 2 2.2239046290602533 0.0261548615638349 |
| Decreased nasal nitric oxide 1 1 -2.223728743694522 0.0261667001093499 |
| Immotile cilia 1 1 -2.223728743694522 0.0261667001093499 |
| Lack of skin elasticity 13 18 2.222090413982273 0.026277195977062 |
| Keratosis pilaris 4 7 -2.218546847521725 0.0265175690690204 |
| Abnormal hemidiaphragm morphology 2 3 -2.218414123293869 0.0265266090251277 |
| Neutropenia in presence of anti neutropil antibodies 6 8 2.2183600023592454 0.0265302960104569 |
| Vertebral hypoplasia 8 12 2.2168163841606927 0.0266356414402511 |
| Percussion myotonia 3 3 -2.2156341580452543 0.0267165675188179 |
| Limited hip extension 0 1 2.2151991614130178 0.0267463974257666 |
| Non medullary thyroid carcinoma 1 2 -2.2144313124765542 0.0267991228879833 |
| Decreased activity of nadph oxidase 0 1 2.214118058943805 0.0268206586594748 |
| Anterior pituitary dysgenesis 5 7 -2.2128888287278525 0.0269053110676416 |
| Mesoaxial polydactyly 4 6 -2.2125986621326166 0.0269253273576794 |
| Parkinsonism with favorable response to dopaminergic medication 7 13 2.209443253058148 0.0271438253549729 |
| Respiratory insufficiency 130 267 2.208800114687832 0.0271885470755759 |
| Hyperuricosuria 0 3 2.2081661872892906 0.0272326905112092 |
| Prolonged pr interval 1 1 -2.207294636194232 0.0272934817984422 |
| Decreased achilles reflex 1 2 -2.206437714118729 0.0273533668307348 |
| Personality disorder 4 5 -2.20354926967931 0.0275560583513063 |
| Lymphadenitis 1 1 -2.2018099646232487 0.0276787349120306 |
| Hyperplasia of the maxilla 0 2 2.201539241885832 0.0276978718102958 |
| Abnormal size of the dental root 1 2 -2.2014913123602966 0.0277012610499451 |
| Dermal translucency 7 9 2.2012286477025067 0.0277198412022523 |
| Abnormal circulating serine concentration 2 4 2.1999181506770284 0.0278127026926782 |
| Aplasia hypoplasia of the phalanges of the 2nd finger 2 2 -2.1998801451397787 0.0278153997529275 |
| Aplasia hypoplasia of the 2nd finger 2 2 -2.1998801451397787 0.0278153997529275 |
| Abnormality of the phalanges of the 2nd finger 2 2 -2.1998801451397787 0.0278153997529275 |
| Horizontal ribs 7 9 -2.199847650367753 0.0278177059209419 |
| Aplasia hypoplasia of the spleen 7 15 -2.199631739066502 0.0278330334266574 |
| Hyperkinetic movements 9 14 2.1982128807497863 0.0279339391987158 |
| Trismus 3 4 2.1979534447668394 0.0279524237227117 |
| Renal sodium wasting 1 1 -2.197419840089685 0.0279904756092461 |
| Bicarbonate wasting renal tubular acidosis 1 1 -2.197419840089685 0.0279904756092461 |
| Increased urinary potassium 1 1 -2.197419840089685 0.0279904756092461 |
| Schizophrenia 12 26 2.1971661711334622 0.0280085806514878 |
| Primary amenorrhea 22 37 2.195727717064981 0.028111438059442 |
| Abnormal tongue physiology 12 24 2.194876633414821 0.0281724483997085 |
| Abnormality of coordination 184 516 2.1935359304800803 0.0282687887909982 |
| Supernumerary spleens 8 20 -2.19097565184163 0.0284535544538058 |
| Semilobar holoprosencephaly 3 4 2.1886545507540376 0.0286219576984616 |
| Emg myotonic discharges 1 1 -2.188633228214493 0.0286235086867261 |
| Cervical cord compression 3 3 -2.1861985113175866 0.0288010851425435 |
| Congenital malformation of the right heart 8 21 -2.1859629863917247 0.0288183133995665 |
| Leukemia 35 87 2.1831866034751477 0.0290220709058288 |
| Abnormal macroscopic urine appearance 18 25 2.182222671955997 0.0290931028205525 |
| Weakness of muscles of respiration 20 46 2.181969298568005 0.0291117986683366 |
| Abnormality of vitamin a metabolism 3 6 2.1807102210838405 0.0292048565700107 |
| Vomiting 71 135 2.179743741840417 0.029276462204903 |
| Aplasia hypoplasia of the thymus 8 19 2.179359409504336 0.0293049790158672 |
| Delayed ability to stand 2 4 2.1793278318496494 0.0293073230866749 |
| Severe b lymphocytopenia 1 2 -2.179322909869443 0.0293076884693834 |
| Microtia third degree 4 7 -2.1791109419619543 0.0293234276051195 |
| Congenital finger flexion contractures 1 2 -2.1790306909111954 0.0293293883395038 |
| Hemiplegia 4 4 -2.178812760691047 0.0293455806040601 |
| Abnormal brain choline level by mrs 2 3 2.177252874606429 0.0294617051891821 |
| Abnormality of the liver 212 471 2.176379040682618 0.0295269296946236 |
| Pulmonary artery atresia 3 6 -2.17119847700605 0.0299161724412955 |
| Abnormal urine potassium concentration 0 2 2.1711767184365627 0.0299178165337532 |
| Abnormal vena cava morphology 7 20 -2.1696068893606206 0.0300366390311159 |
| Premature ventricular contraction 4 7 2.1686864265702086 0.0301064985772732 |
| Aplasia hypoplasia of the ear 42 82 2.164692679510907 0.0304112280702684 |
| Cleft soft palate 41 86 2.1640570241038004 0.030459973237733 |
| Aplasia hypoplasia of the middle phalanges of the toes 1 2 -2.163790911022072 0.0304804000124669 |
| Chorioretinal dystrophy 2 3 -2.163350694899084 0.0305142167259593 |
| Irregular iliac crest 1 1 -2.163324517031435 0.0305162286835147 |
| Rhizomelic arm shortening 1 1 -2.163324517031435 0.0305162286835147 |
| Corpus callosum atrophy 9 17 2.1625114466492743 0.030578775749388 |
| Square face 4 6 -2.16096486122785 0.0306980538702417 |
| Small for gestational age 59 118 2.160570828156487 0.0307285068752218 |
| Wide cranial sutures 6 10 2.158919764769729 0.0308563922082776 |
| Craniofacial asymmetry 2 3 2.155564002263169 0.0311177259744583 |
| Coronary artery atherosclerosis 7 12 -2.155383591214916 0.0311318293314974 |
| Failure to thrive 209 472 2.1534558358526747 0.0312828714367239 |
| Abnormality of the frontal hairline 58 104 2.152947484886328 0.0313228059953127 |
| Recurrent bronchitis 6 12 -2.1496339194468788 0.0315841831823662 |
| Emg neuropathic changes 13 34 2.147534270799398 0.0317507718662786 |
| Meningioma 11 20 -2.147403971320041 0.0317611347684021 |
| Delusions 16 24 2.146048871552402 0.0318690797987246 |
| Mesoaxial hand polydactyly 1 2 -2.145502813016664 0.0319126667528286 |
| Spasticity 206 496 2.144329752249288 0.0320064745123274 |
| Aplasia of the fingers 15 40 2.1442809182559546 0.03201038480654 |
| Abnormal respiratory system morphology 187 493 2.143841822292724 0.0320455630244169 |
| Spontaneous hemolytic crises 0 2 2.143364442211229 0.0320838459686738 |
| Cerebellar hemorrhage 4 6 2.1406264633641645 0.0323041729646937 |
| Ambiguous genitalia male 0 3 2.140029900450916 0.0323523504134748 |
| Focal t2 hyperintense brainstem lesion 13 23 2.1376635700550244 0.0325440582409166 |
| Noncommunicating hydrocephalus 1 1 -2.136840907703873 0.0326109336306004 |
| Abnormal pulmonary interstitial morphology 24 43 2.1365098280611456 0.0326378807608835 |
| Unilateral cleft palate 1 2 -2.1355132558406718 0.0327191085770608 |
| Supranuclear ophthalmoplegia 0 2 2.1329263248716805 0.0329307704536874 |
| Hypoplasia of the primary teeth 2 2 -2.1329255778941003 0.0329308317400447 |
| Abnormality of the musculature of the hand 15 50 2.1319848606309346 0.0330080911544201 |
| Hemolytic uremic syndrome 4 4 -2.1317949131293825 0.0330237100140415 |
| Organic aciduria 31 55 2.12910734931226 0.0332453798654615 |
| Congenital hip dislocation 19 34 2.1290253972422124 0.0332521592166481 |
| Stillbirth 8 15 2.126852571970006 0.0334323346036544 |
| Oligoarthritis 1 2 -2.1261420962546573 0.0334914297049588 |
| Reduced renal corticomedullary differentiation 1 2 2.125282378245672 0.0335630577678407 |
| Chronic hepatic failure 2 4 2.116851720665358 0.0342724342201319 |
| Olivopontocerebellar atrophy 0 2 2.1164123571632865 0.0343097520108042 |
| Halitosis 1 1 -2.1147132709586787 0.0344543925918947 |
| Hypoamylasemia 3 5 2.1145161109594484 0.0344712102024598 |
| Shallow acetabular fossae 3 5 -2.113159553057125 0.034587113886888 |
| Aplasia hypoplasia of the distal phalanges of the toes 3 3 -2.10939353012876 0.0349106274924666 |
| Hip flexor weakness 0 2 2.105547367252344 0.035243688672631 |
| Abnormal glial cell morphology 39 86 2.105377506775312 0.0352584601776944 |
| Muscle weakness 184 453 2.105293945485379 0.035265728821753 |
| Abnormal retinal artery morphology 17 31 2.104752038898538 0.0353128980354733 |
| Exudative retinal detachment 1 1 -2.103629747632017 0.03541075695236 |
| Palmar telangiectasia 0 2 2.101920657084752 0.0355602266905616 |
| Retinal arteriolar tortuosity 7 14 2.1018605282186966 0.0355654950902015 |
| Congenital malformation of the left heart 5 12 -2.1003265067570625 0.0357001290881011 |
| Paralysis 27 69 2.099024910490238 0.035814704879203 |
| Cigarette paper scars 0 1 2.0977859700205954 0.0359240564380449 |
| Atrophy of alveolar ridges 0 1 2.0977859700205954 0.0359240564380449 |
| Liver abscess 0 1 2.0977859700205954 0.0359240564380449 |
| Increased serine family amino acid in urine 6 7 2.09710290319264 0.0359844670528095 |
| Perineal fistula 4 4 -2.0968053622445826 0.0360108087255119 |
| Absent distal phalanges 0 2 2.09664189902944 0.0360252873246937 |
| Recurrent joint dislocation 2 3 -2.095805393143612 0.0360994577519155 |
| Abnormal abdomen morphology 161 337 2.094664533363864 0.0362008241347007 |
| Macrodontia of permanent maxillary central incisor 4 6 -2.0933153650402425 0.0363210119414265 |
| Abnormal cns myelination 102 205 2.087356771946904 0.0368558964578717 |
| Heinz bodies 1 2 2.087334127539186 0.0368579419042749 |
| Infantile onset 122 270 2.086897753740927 0.0368973779952119 |
| Open bite 14 20 2.0858733145301573 0.0369901001210117 |
| Leukopenia 35 67 2.0853531899177264 0.0370372525624673 |
| Vascular tortuosity 6 9 -2.083780583678376 0.0371801302577283 |
| Abnormality of the urinary system physiology 199 434 2.081111587035584 0.0374236935120286 |
| Upper airway obstruction 3 5 2.0792551370375363 0.0375939062500951 |
| Prominent ear helix 2 4 2.077663011708548 0.0377404080953001 |
| Absent hair 9 14 2.0776143052228324 0.0377448975428238 |
| Moderately reduced visual acuity 2 3 2.0774963571442613 0.0377557711129723 |
| Small basal ganglia 5 9 2.0772272594297623 0.037780589062947 |
| Multiple cafe au lait spots 14 33 -2.074860924509454 0.0379994261315035 |
| Severe platyspondyly 3 3 -2.071211564646464 0.0383390293367464 |
| Horizontal pendular nystagmus 1 3 2.0710600786927733 0.0383531819566669 |
| Wide intermamillary distance 17 47 -2.0710593229340573 0.03835325257478 |
| Slender build 7 16 2.0704311523383336 0.0384119870907682 |
| Adrenocortical adenoma 2 2 -2.0694590141515667 0.03850303359529 |
| Hematochezia 2 2 -2.0694590141515667 0.03850303359529 |
| Hyperpigmentation of the fundus 2 2 -2.0694590141515667 0.03850303359529 |
| Imbalanced hemoglobin synthesis 1 1 -2.0691876455583107 0.0385284815953079 |
| Neoplasm of the large intestine 24 66 2.0674586893453637 0.0386909529737216 |
| Abnormal palate morphology 194 463 2.067421286749956 0.0386944741485548 |
| Functional abnormality of the gastrointestinal tract 183 435 2.065730891700316 0.038853896695991 |
| Chin with horizontal crease 1 1 -2.0647343684636703 0.0389481408060774 |
| Acral blistering 1 2 2.0639170442184542 0.0390255824225251 |
| Death in adolescence 2 4 -2.063797085915286 0.0390369594918345 |
| Abnormal blood inorganic cation concentration 26 54 2.063460530174385 0.039068894106427 |
| Abnormality of neutrophil morphology 3 6 2.061981444642022 0.0392095025878114 |
| Optic nerve compression 0 1 2.061651411687593 0.0392409355684897 |
| Facial paralysis 0 1 2.061651411687593 0.0392409355684897 |
| Abnormality of the biliary system 85 173 2.060247990960318 0.0393748391486905 |
| Increased nuchal translucency 13 20 2.059974863580419 0.0394009439013101 |
| Absent outer dynein arms 0 2 2.059149300705454 0.0394799382394428 |
| Absent shortened dynein arms 0 2 2.059149300705454 0.0394799382394428 |
| Deep venous thrombosis 7 8 -2.058597074114813 0.0395328532863989 |
| Hypoinsulinemia 1 3 -2.05816242457296 0.0395745442803068 |
| Acromicria 1 1 -2.058050549377055 0.0395852812341424 |
| Progressive 59 164 2.057920057343153 0.0395978080182084 |
| Spontaneous pain sensation 0 1 2.0572634411645203 0.0396608919724914 |
| Acroparesthesia 0 1 2.0572634411645203 0.0396608919724914 |
| Membranoproliferative glomerulonephritis 1 2 2.056100594807264 0.0397728209345351 |
| Recurrent staphylococcal infections 1 2 2.056100594807264 0.0397728209345351 |
| Recurrent staphylococcus aureus infections 1 2 2.056100594807264 0.0397728209345351 |
| Decreased proportion of cd3 positive t cells 1 2 2.056100594807264 0.0397728209345351 |
| Loss of eyelashes 2 3 2.0537893679953925 0.0399960824225043 |
| Minicore myopathy 1 3 2.0525038238067435 0.040120723820388 |
| Reticular hyperpigmentation 1 2 2.0492568224430645 0.0404370083434661 |
| Absent foveal reflex 1 1 -2.049131514280546 0.0404492566328267 |
| Abnormal placenta morphology 6 12 2.0480341480161224 0.0405566535290571 |
| Anomic aphasia 2 3 -2.04798974475877 0.0405610042649948 |
| Generalized amyotrophy 14 38 2.0478987756574374 0.0405699188678738 |
| Periventricular nodular heterotopia 4 7 -2.0437073902269614 0.0409824627008132 |
| Orthostatic hypotension 11 18 2.0432402670225955 0.0410286594335627 |
| Peripheral visual field loss 1 3 2.0408496791830686 0.0412657708491763 |
| Amegakaryocytic thrombocytopenia 1 2 2.0404517089741376 0.0413053561631873 |
| Reduced factor xiii activity 1 2 2.0404517089741376 0.0413053561631873 |
| Abnormality of the middle phalanges of the toes 2 3 -2.040202036600995 0.0413302069976664 |
| Lethargy 56 113 2.038132389708877 0.0415366947371356 |
| Clinodactyly of the 2nd finger 2 2 -2.037563088423677 0.0415936466216249 |
| Exercise induced rhabdomyolysis 2 3 2.037348920389749 0.0416150887173674 |
| Hyperammonemia 29 48 2.035866364054681 0.0417637762074929 |
| Oxycephaly 1 1 -2.035737402181823 0.0417767311943215 |
| Abnormal urine metabolite level 121 242 2.03366086465398 0.0419858005548141 |
| Intermittent episodes of respiratory insufficiency due to muscle weakness 2 3 -2.032972822931633 0.0420552687826494 |
| Ivory epiphyses 4 4 -2.032596368592149 0.0420933186966099 |
| Thickened helices 5 18 -2.0310072445350915 0.0422542597100705 |
| Abnormal internal carotid artery morphology 3 5 -2.0296794762090355 0.0423891304257229 |
| Abnormal granulocytopoietic cell morphology 2 4 2.029311901871277 0.042426531815622 |
| Pace of progression 86 254 2.0290756952293827 0.0424505810206665 |
| Neuroma 1 2 -2.026314020137404 0.0427326154378429 |
| Corneal ulceration 4 5 2.024883170240364 0.0428793621358936 |
| Posterior uveitis 2 2 -2.0185739215742 0.0435315238047406 |
| Exercise induced myoglobinuria 2 6 2.0170146285767627 0.0436939867393437 |
| Secretory diarrhea 0 2 2.015944440295835 0.0438057858731224 |
| Abnormal cardiac ventricular function 11 39 -2.014593547150624 0.04394725415892 |
| Hypoplastic ischia 5 5 -2.014171933677583 0.0439914852832312 |
| Abnormal anatomic location of the heart 9 26 -2.012672605490774 0.0441490831634387 |
| Abnormal scapula morphology 33 77 2.012099884125307 0.0442094088996281 |
| Fusion of the cerebellar hemispheres 1 3 -2.0102186288684623 0.044408054600773 |
| Metabolic acidosis 51 87 2.0069859839984447 0.0447511554010207 |
| Aplasia hypoplasia of the vagina 2 3 2.0062334413522254 0.0448313475098998 |
| Aplasia of the semicircular canal 3 6 -2.005745649629628 0.0448833920642326 |
| Esophageal ulceration 1 1 -2.0055326611087674 0.0449061326833502 |
| Coronary artery aneurysm 3 4 -2.0046453318132804 0.0450009767334003 |
| Bone pain 16 33 2.0044097698601577 0.0450261836204486 |
| Abnormal emotion affect behavior 140 345 1.9994925449822696 0.0455550876836445 |
| Stenosis of the external auditory canal 6 8 1.9978704292348424 0.0457307092915155 |
| Hypersplenism 6 10 1.997599139685848 0.0457601366034059 |
| Gliosis 22 59 1.995879743304554 0.0459470141149553 |
| Aortic valve stenosis 9 22 -1.994893308482776 0.0460545174991005 |
| Exaggerated startle response 6 10 1.9944131258567528 0.0461069252474684 |
| Abnormality of the ischium 7 8 -1.9943913424599455 0.0461093039057389 |
| Smooth muscle antibody positivity 1 2 1.9943616153531645 0.0461125501515495 |
| Accelerated atherosclerosis 1 2 -1.9925933488347445 0.0463059940957699 |
| Aplasia hypoplasia of the skin 46 80 1.9913178677513157 0.0464459523204014 |
| Abnormal branching pattern of the aortic arch 2 6 -1.9901054149970396 0.0465793244336874 |
| Visual agnosia 3 4 -1.988538203031104 0.0467521982290906 |
| Decreased serum complement c4 1 2 -1.9884506698304376 0.0467618696162022 |
| Enlarged tonsils 0 1 1.985720700861952 0.0470643451286965 |
| Cerebral white matter atrophy 16 27 1.98572019148978 0.0470644017194006 |
| Joint stiffness 44 78 1.9841440263382852 0.0472397863181546 |
| Abnormal magnesium concentration 4 6 1.9817164919535968 0.047510980343578 |
| Thoracic dysplasia 2 3 -1.980527143344019 0.047644326448516 |
| Absent hypoplastic paranasal sinuses 2 3 1.978713287214995 0.0478482961101289 |
| Inverted nipples 8 20 -1.9775865134160624 0.0479753719497373 |
| Hallucinations 40 64 1.9760086007735944 0.0481538030972097 |
| Lactic acidosis 61 128 1.9753300511915528 0.0482307050763564 |
| Central diabetes insipidus 1 2 1.9746948382536889 0.0483027890612159 |
| Abnormal serum interleukin level 3 7 -1.9737828563090876 0.048406439018525 |
| Retinal arterial tortuosity 4 6 -1.973564941783996 0.0484312334036767 |
| Abnormal bronchus morphology 14 42 -1.9730228697483971 0.0484929568067422 |
| Hypokalemic alkalosis 0 1 1.9724646247299176 0.0485565907932068 |
| Hypokalemic metabolic alkalosis 0 1 1.9724646247299176 0.0485565907932068 |
| Primary gonadal insufficiency 7 10 1.971012125542524 0.0487224888892316 |
| Prominent nasal tip 5 9 -1.9695614756035769 0.0488886504928463 |
| Increased laxity of ankles 1 2 1.9687886321797303 0.0489773682439196 |
| Acetabular spurs 0 1 1.9680426615361597 0.0490631292889061 |
| Multicystic kidney dysplasia 15 41 -1.9670683801956477 0.0491753280004698 |
| Angina pectoris 8 12 -1.965961193772501 0.0493030934187126 |
| Abnormality of the gastric mucosa 11 19 1.9633089701025623 0.049610283794143 |
| Nausea and vomiting 104 218 1.9630765701597928 0.0496372775481495 |
| Short nail 3 6 1.96296208771156 0.0496505794593837 |
| Unilateral ptosis 1 3 1.962109578609488 0.0497497280035292 |
| Red green dyschromatopsia 1 3 1.962026559563396 0.0497593921533763 |
| Anomalous trichromacy 1 3 1.9620265595633728 0.0497593921533789 |
| Tritanomaly 1 3 1.9620265595633728 0.0497593921533789 |
| Branchial fistula 4 6 1.9574855085364125 0.0502904139133084 |
| Mildly elevated creatine kinase 13 31 1.9570032086103992 0.0503470911187164 |
| Asterixis 1 2 -1.955117749944281 0.0505691736690638 |
| Inappropriate sexual behavior 2 2 -1.9533262911509996 0.0507809440770783 |
| Tetany 3 7 1.9527720809568 0.0508466081636493 |
| Occipital meningocele 3 7 1.9527720809567608 0.050846608163654 |
| Clubbing of fingers 4 9 -1.9515025500107488 0.0509972931635138 |
| Brisk reflexes 17 32 1.950714519920771 0.0510910151431929 |
| Multiple renal cysts 11 22 1.950331577790424 0.0511366112558664 |
| Dysuria 7 8 1.9493609428448837 0.051252335363789 |
| Diffuse palmoplantar hyperkeratosis 1 1 -1.9493515579448173 0.051253455349328 |
| Lenticonus 1 1 -1.9482247002057973 0.0513880825504875 |
| Abnormality of upper lip 168 412 1.9473215115662548 0.0514962012984272 |
| Abnormality of prenatal development or birth 111 390 1.9459147946599336 0.051664975475907 |
| Abnormal 5th finger phalanx morphology 4 6 -1.943262558373429 0.0519844429119418 |
| Hypersomnia 0 2 1.9428683068569643 0.0520320721158176 |
| Finger swelling 1 2 1.9421759389108424 0.052115804861867 |
| Hyperaldosteronism 1 2 1.942175938910826 0.052115804861869 |
| Peritonitis 10 19 1.9396893261621169 0.0524174575570781 |
| Urethral atresia 5 5 -1.9376393205858564 0.0526672417316431 |
| Granulocytopenia 3 4 1.9373455635978616 0.052703116098659 |
| Abnormality of urine homeostasis 139 300 1.9345116502783168 0.0530502510507093 |
| Abnormal glucose homeostasis 115 271 1.933933344847449 0.0531213236945544 |
| Decreased circulating progesterone 5 6 1.9337985082428453 0.053137906289493 |
| Abnormal circulating progesterone level 5 6 1.9337985082428453 0.053137906289493 |
| Sick sinus syndrome 5 6 -1.9336381400268443 0.0531576344659905 |
| Short face 2 3 1.932714233122269 0.0532714108495686 |
| Fingernail dysplasia 1 2 -1.931678309163381 0.0533992236345395 |
| Elevated urinary monocarboxylic acid level 2 4 1.9303913031087931 0.0535583717060852 |
| Peg shaped maxillary lateral incisors 2 2 -1.9291245400390689 0.053715403167017 |
| Abnormal liver morphology 164 370 1.9272602192634185 0.0539472085573498 |
| Periventricular cysts 5 7 1.926279247872675 0.0540695151869359 |
| Abnormality of digestive system morphology 169 401 1.919785071344288 0.0548850533194842 |
| Increased overbite 2 3 -1.9194435214156989 0.0549282275157907 |
| Hypermethioninemia 4 5 1.9192557491222295 0.0549519752509417 |
| Constitutional symptom 149 392 1.9188437585695284 0.0550041100735771 |
| Oval face 5 7 1.9163244182921717 0.0553238146397943 |
| Abnormality of the distal phalanx of the hallux 2 3 -1.9161819745129185 0.0553419369336223 |
| Abnormal basophil morphology 2 2 -1.9149796619463093 0.0554950973725816 |
| Abnormal circulating dicarboxylic acid concentration 35 57 1.9149288013869268 0.0555015841869077 |
| Hypoplastic frontal sinuses 1 2 -1.91371774866732 0.0556562299784677 |
| Syncope 15 27 -1.912206380653632 0.0558497280331409 |
| Abnormal circulating apolipoprotein concentration 2 3 1.9096546355188304 0.0561776955055799 |
| Abnormal cutaneous elastic fiber morphology 2 3 1.9096546355188304 0.0561776955055799 |
| Prominent veins on trunk 2 3 1.9096546355188304 0.0561776955055799 |
| Intellectual disability progressive 11 27 -1.908420598479487 0.0563368766335179 |
| Irregular acetabular roof 0 1 1.9070781080216492 0.0565104736761856 |
| Abnormal hemoglobin concentration 1 2 -1.906636948968708 0.0565676169292372 |
| Abnormal biliary tract morphology 18 32 1.9064444071822964 0.0565925719035926 |
| Functional abnormality of the inner ear 164 391 1.9064345597781405 0.056593848453148 |
| Aplasia hypoplasia of the thyroid gland 4 5 1.905655809675192 0.0566948761588472 |
| Abnormality of the musculature of the thigh 7 9 1.9034831065408533 0.0569775359743172 |
| Limitation of movement at ankles 2 5 1.9031120774738133 0.0570259223465134 |
| Progressive psychomotor deterioration 7 10 1.9003140985605251 0.0573919122639836 |
| Abnormal circulating amylase level 3 6 1.899981296058832 0.0574355742242966 |
| Abnormality of visual evoked potentials 14 30 1.8978300835943087 0.0577184688948613 |
| Elevated circulating aspartate aminotransferase concentration 8 15 1.8974938975393525 0.0577627834369076 |
| Abnormal location of ears 165 393 1.8941959276351128 0.0581990084670427 |
| Progressive cerebellar ataxia 30 53 1.8933410603790768 0.0583125280515144 |
| Abnormal posturing 3 3 -1.893160190459194 0.0583365697024964 |
| Remnants of the hyaloid vascular system 2 3 -1.8920813436558537 0.0584801436281043 |
| Thymus hyperplasia 3 4 -1.8911823812339343 0.0586000024320709 |
| Agitation 21 50 1.890725217779491 0.0586610343229687 |
| Abnormal inflammatory response 161 386 1.889837999359961 0.0587796297169398 |
| Short femur 4 7 1.8896359743736697 0.0588066624129366 |
| Abnormality of the mastoid 1 3 1.889150174593351 0.0588717088962384 |
| Mastoiditis 1 3 1.889150174593351 0.0588717088962384 |
| Abnormal breath sound 7 20 -1.88873734868344 0.0589270314338215 |
| Elevated lactate pyruvate ratio 3 4 1.888050183323488 0.0590192137350951 |
| Status epilepticus with prominent motor symptoms 2 6 -1.8878653548323296 0.0590440286455953 |
| Hemiparesis 18 37 -1.88641748545208 0.0592387181224922 |
| Fibrosarcoma 1 3 1.8837420552108917 0.0595998748538157 |
| Dry hair 3 6 -1.8821096829111583 0.0598211249348441 |
| Gout 2 6 1.8812466984346008 0.0599383679722063 |
| Respiratory alkalosis 1 2 -1.8805756009756127 0.0600296733500855 |
| Protein avoidance 1 2 -1.8805756009756127 0.0600296733500855 |
| Impaired smooth pursuit 10 23 1.8778372497796856 0.0604034327626945 |
| Decreased fertility in males 10 23 -1.876323195402689 0.0606109138431167 |
| Abnormality of canine 0 2 1.875759005416355 0.0606883794941421 |
| Abnormality of frontalis muscle belly 1 2 -1.875555534117587 0.0607163370783476 |
| Progressive leukoencephalopathy 2 3 1.87545559874994 0.060730072413726 |
| Generalized muscle weakness 22 51 1.8750313493750432 0.0607884108437573 |
| Ptosis 148 347 1.8727166568270373 0.0611075219914027 |
| Connective tissue nevi 1 3 1.871256524968086 0.0613095333641502 |
| Perianal abscess 0 1 1.869243724258784 0.0615889136047806 |
| Elfin facies 5 8 1.868761322755637 0.0616560281115232 |
| Abnormal esophagus physiology 136 344 1.8671509305542755 0.0618805137878122 |
| Interstitial cardiac fibrosis 1 2 1.8649856303351025 0.0621834184224541 |
| Scrotal hypoplasia 13 25 1.864559609186851 0.0622431588633618 |
| Hydroxyprolinuria 1 2 1.8639931316955036 0.06232266886612 |
| Accessory oral frenulum 4 8 -1.862370903305002 0.0625508275424935 |
| Symphalangism of middle phalanx of finger 0 2 1.859609420182704 0.0629408055772977 |
| Neonatal respiratory distress 15 44 -1.8574598950485373 0.0632457519127971 |
| Proximal femoral metaphyseal irregularity 1 3 1.8572731205607185 0.0632723065773168 |
| Pain 90 282 1.8570242282494775 0.0633077071632643 |
| Blue irides 6 11 1.8552661396422645 0.0635582309741864 |
| Neoplasm 160 354 1.8550715040748116 0.0635860164073813 |
| Steroid resistant nephrotic syndrome 4 6 1.8549372436357856 0.0636051887648054 |
| Abnormal st segment 6 9 -1.853698615117596 0.0637822899654798 |
| Open angle glaucoma 2 3 -1.853304508297396 0.0638387253661638 |
| Abnormal vestibulo ocular reflex 1 2 1.853070993942915 0.0638721836626712 |
| Abnormal rib ossification 2 4 1.8529395219834883 0.0638910275390141 |
| Joint contracture of the 5th finger 5 5 -1.8529195571892405 0.063893889494544 |
| Cutaneous syndactyly 9 21 -1.851704533831544 0.0640682626230531 |
| Developmental glaucoma 12 40 1.851391383408838 0.0641132677940659 |
| Eeg with generalized sharp slow waves 4 6 1.8511060335193263 0.0641543002710651 |
| Congestive heart failure 46 97 1.8510277292442123 0.0641655639866476 |
| Deformed rib cage 2 4 1.8508745711072785 0.0641875998115129 |
| Abnormality of the pinna 168 378 1.8505478254207304 0.0642346316524835 |
| Shoulder pain 2 3 -1.8500579571992133 0.0643051966824865 |
| Abnormal sperm motility 5 9 -1.8497530917477192 0.0643491445441293 |
| Abnormality of the zygomatic bone 47 113 1.8489138475513935 0.0644702538264803 |
| Yellow white lesions of the retina 3 6 -1.8488410202999648 0.0644807722146842 |
| Abnormality of skeletal muscle fiber size 9 28 1.848834334163425 0.0644817379596198 |
| Camptodactyly of toe 4 7 1.8472549520984705 0.0647101984640534 |
| Dilated third ventricle 1 5 1.8468875823753963 0.0647634348063266 |
| Abnormal chorioretinal morphology 26 57 -1.8468799462866676 0.0647645417517526 |
| Lactose intolerance 2 3 1.846739480429085 0.0647849067986383 |
| Bifid nose 1 1 -1.845159747406413 0.0650143040098827 |
| Intrauterine growth retardation 137 303 1.844808678707817 0.0650653745191878 |
| Pseudohypoaldosteronism 0 2 1.844612830029588 0.065093879307347 |
| Aganglionic megacolon 23 42 -1.8443083014700596 0.065138222364139 |
| Abnormal circulating free fatty acid concentration 3 4 1.843804596539484 0.0652116226052563 |
| Exercise induced muscle stiffness 0 2 1.843280355645733 0.0652880877906096 |
| Serositis 17 26 1.8427715163446847 0.0653623772164497 |
| Low levels of vitamin d 6 11 1.8416856363571057 0.0655211464341642 |
| Hematemesis 1 3 -1.841011098673721 0.0656199322796433 |
| Abnormal anterior horn cell morphology 4 8 1.840004504882899 0.0657675759428795 |
| Aplastic hypoplastic toenail 26 53 1.839904922531968 0.0657821972071135 |
| Abnormality of bone mineral density 97 209 1.839838116953809 0.0657920074950615 |
| Giant somatosensory evoked potentials 0 1 1.8380050239683048 0.0660616650084273 |
| Fetal distress 16 33 1.8356237936086517 0.0664133156590569 |
| Abnormal platelet morphology 3 7 1.8355623657367988 0.0664224074448136 |
| Hepatomegaly 120 262 1.8352578438548663 0.06646749410756 |
| Abnormal ureter morphology 18 51 -1.8339645266162208 0.0666592600179134 |
| Lobulated tongue 3 4 -1.833583768367788 0.0667158034755839 |
| Hypoplasia of olfactory tract 3 4 -1.833583768367788 0.0667158034755839 |
| Central y shaped metacarpal 3 4 -1.833583768367788 0.0667158034755839 |
| Decreased circulating gaba concentration 0 1 1.8335365407261388 0.0667228196392106 |
| Exercise induced myalgia 7 14 1.8334779428624224 0.0667315258137004 |
| Gastrointestinal carcinoma 20 48 1.830206716103216 0.0672190339045364 |
| Swan neck like deformities of the fingers 2 3 -1.8300628631814255 0.0672405392896982 |
| Reduced consciousness confusion 88 186 1.82869579065874 0.067445193414261 |
| Premature thelarche 3 4 -1.8273229723499351 0.0676512231995827 |
| Myoclonic absence seizure 1 2 -1.8265357458559168 0.0677696019540032 |
| Retinal detachment 17 35 -1.8237264157647988 0.0681934432210775 |
| Absent facial hair 8 12 1.8214495001488509 0.0685385565051364 |
| Elevated circulating glutaric acid concentration 3 5 1.8212046090365428 0.0685757601302359 |
| Interstitial pneumonitis 3 4 -1.819765862543122 0.068794668474502 |
| Cortical thickening of long bone diaphyses 1 2 1.818263082735912 0.0690239324143502 |
| Left to right shunt 1 2 -1.818202086470583 0.0690332512381597 |
| Cardiac shunt 1 2 -1.818202086470583 0.0690332512381597 |
| Lacrimal duct atresia 0 2 1.8172587731114196 0.0691774994202485 |
| Cystathioninemia 3 4 -1.816341527293154 0.0693179987670069 |
| Abnormality of the eustachian tube 1 1 -1.815527044425788 0.0694429537378145 |
| Frequent falls 25 57 1.8150346248721692 0.0695185886154048 |
| Curly eyelashes 4 6 1.814876543869553 0.0695428839499907 |
| Abnormal cellular phenotype 92 292 1.814346512607082 0.0696243948835693 |
| Decreased serum insulin like growth factor 1 3 5 -1.8138671916619853 0.0696981748500875 |
| Hypoplastic spleen 1 1 -1.8109610153402875 0.0701468865229411 |
| Hemophagocytosis 1 3 -1.8109567755940927 0.0701475428644677 |
| Abnormal nasal mucosa morphology 4 9 -1.8083943503839943 0.070545146605915 |
| Depression 72 155 1.808157142863028 0.0705820466755682 |
| Generalized abnormality of skin 157 359 1.8055788580120564 0.0709841475383352 |
| Delayed proximal femoral epiphyseal ossification 0 1 1.8055764324236183 0.0709845267076172 |
| Basilar invagination 0 1 1.8055764324236183 0.0709845267076172 |
| Distal sensory loss of all modalities 3 4 1.805533015876188 0.0709913138864197 |
| Abnormality of the epiphyses of the distal phalanx of finger 1 2 1.805313413222487 0.071025651863799 |
| Aplasia of the middle phalanx of the hand 1 2 -1.8048708625150736 0.0710948922912386 |
| Leg muscle stiffness 6 10 -1.804610341175066 0.0711356787083081 |
| Fulminant hepatic failure 2 4 1.804209366921869 0.0711984914798016 |
| Abnormal light and dark adapted electroretinogram 5 9 1.8036172861924715 0.0712913242800437 |
| Abnormal full field electroretinogram 5 9 1.8036172861924715 0.0712913242800437 |
| Abnormal dlco 3 5 -1.802698364987196 0.0714355991116781 |
| Neoplasm of the liver 26 53 1.801818561511126 0.0715739564152757 |
| Small pituitary gland 3 3 -1.8005086962033594 0.0717803517006654 |
| Cessation of head growth 6 7 1.7999650563262235 0.0718661560165319 |
| Triceps weakness 1 2 -1.7987808079992984 0.0720533603724655 |
| Spontaneous hematomas 4 5 -1.798703828603225 0.072065542981998 |
| Dysgenesis of the hippocampus 2 4 -1.7973765020775214 0.0722758685513249 |
| Juvenile onset 29 58 1.795521151170567 0.0725707059161946 |
| Proptosis 35 107 -1.793930157624964 0.0728243172126217 |
| Abnormal spinal meningeal morphology 4 6 -1.790789570331188 0.0733270695678318 |
| Hematological neoplasm 48 131 1.7896346454389411 0.0735126650849811 |
| Abnormal hair quantity 149 352 1.789630023949641 0.0735134085256716 |
| Muscle spasm 32 89 1.7889893467130666 0.0736165312635841 |
| Increased circulating gonadotropin level 8 12 1.7873022886287988 0.0738886443361259 |
| Thin skin 20 33 1.7868742485682692 0.0739578154409303 |
| Localized skin lesion 140 348 1.7867845605564263 0.0739723156939728 |
| Abnormal dense granules 1 2 -1.7864625050885972 0.0740244029662005 |
| Cyanotic episode 1 2 -1.7844152121481782 0.0743562210084354 |
| Recurrent cutaneous abscess formation 2 3 -1.7835534463970737 0.074496255975283 |
| Leukodystrophy 42 83 1.781908067202681 0.0747642247783795 |
| Dyschromatopsia 6 8 1.7806960010763198 0.0749621267938418 |
| Duplication involving bones of the feet 21 45 -1.780319123907587 0.0750237491292202 |
| Distal joint laxity 1 3 1.780038200702805 0.0750697091524776 |
| Abnormal brainstem mri signal intensity 13 27 1.7796016320282462 0.0751411789458531 |
| Hypertrophic cardiomyopathy 82 160 1.778940538088558 0.07524951108139 |
| Prominent antihelix 7 8 -1.7784691864566522 0.0753268283674701 |
| Laryngeal stridor 1 2 -1.778271041444907 0.0753593500709222 |
| Miosis 3 3 -1.7774561944511116 0.0754932120875908 |
| Macular dystrophy 3 3 -1.7755328957485257 0.0758099388995343 |
| Moderate global developmental delay 7 12 1.7755192838733338 0.075812184346931 |
| Impairment in personality functioning 138 324 1.774417188689129 0.0759941687518817 |
| Gonadal dysgenesis 8 13 1.773201835353068 0.0761952680511055 |
| Dysplasia of the femoral head 1 3 1.7723061128484554 0.0763437570765783 |
| Lobar holoprosencephaly 4 4 -1.7721948132162288 0.0763622243239467 |
| True hermaphroditism 4 4 -1.7721948132162288 0.0763622243239467 |
| Neonatal death 9 20 1.7700573741690495 0.0767175834563622 |
| High palate 160 345 1.7681378938666312 0.0770378538142575 |
| Portal vein thrombosis 1 2 1.7673979291675757 0.0771616095169094 |
| Short ribs 14 25 -1.7671581669609664 0.0772017433794052 |
| Abnormal myelination 144 340 1.7671317950107877 0.0772061588256673 |
| Abnormal circulating nitrogen compound concentration 40 75 1.7665057519936898 0.077311037424427 |
| Abnormal cerebrospinal fluid metabolite concentration 7 11 1.7658181047496653 0.0774263700892721 |
| Impaired t cell function 6 14 1.7652655950048872 0.0775191389223839 |
| Neoplasm of the adrenal cortex 3 8 1.7650727582489236 0.077551538375598 |
| Abnormality of the first metatarsal bone 3 4 -1.763375826080947 0.0778371241777826 |
| Diminished movement 12 30 1.7624131715660647 0.0779995148209287 |
| Uncontrolled eye movements 1 1 -1.7617577561128883 0.0781102349223978 |
| Low self esteem 1 1 -1.7617577561128883 0.0781102349223978 |
| Paroxysmal dyskinesia 1 1 -1.7617577561128883 0.0781102349223978 |
| Eeg with spike wave complexes 2 5 3 5 hz 1 1 -1.7617577561128883 0.0781102349223978 |
| Clubbing 16 39 -1.7615225006020367 0.07815000810515 |
| Paroxysmal bursts of laughter 0 3 1.7604142128718068 0.0783376012502803 |
| Craniofacial dysostosis 3 5 1.7601404217470498 0.0783840006273659 |
| Abnormal thrombocyte morphology 80 199 1.7601290124085844 0.0783859346531326 |
| Geographic atrophy 1 1 -1.7594640217424782 0.078498726019841 |
| Otosclerosis 1 2 1.7584047135689729 0.0786786716945053 |
| Cold induced muscle cramps 1 3 1.7573359716070034 0.0788605598877389 |
| Joint contractures involving the joints of the feet 7 11 1.756757966520123 0.07895907247408 |
| Abnormality of hepatobiliary system physiology 60 117 1.7564553837551806 0.0790106832245334 |
| Proximal upper limb amyotrophy 6 8 1.755421561507471 0.0791872266553672 |
| Abnormality of the musculature of the upper arm 6 8 1.755421561507471 0.0791872266553672 |
| Skin ulcer 14 43 1.754010759889024 0.079428663460652 |
| Severe short limb dwarfism 1 4 1.7536758539957464 0.0794860652261797 |
| Abnormality of the columella 12 32 -1.7524066231249598 0.0797039134015502 |
| Persistence of primary teeth 4 9 1.7513593364219413 0.0798840327648864 |
| Calf muscle pseudohypertrophy 4 6 -1.750640775041941 0.0800078070003076 |
| Failure to thrive in infancy 22 49 1.7504368098927774 0.080042968958351 |
| Tongue fasciculations 8 15 1.749694279468277 0.0801710813367519 |
| Parathyroid adenoma 3 8 1.7495409083404465 0.0801975639507788 |
| Neoplasm of the parathyroid gland 3 8 1.7495409083404465 0.0801975639507788 |
| Aplasia hypoplasia of the femur 10 21 1.748607605117571 0.080358870806974 |
| Brachydactyly 60 146 -1.7459911958163132 0.08081248171354 |
| Abnormal toenail morphology 26 69 1.7447936386722578 0.081020796529174 |
| Arthritis 26 60 1.744120474656894 0.0811380845331379 |
| Developmental regression 97 195 1.7434605260096827 0.0812532037263824 |
| Spastic tetraparesis 19 36 1.7426029083279284 0.081403001668598 |
| Zollinger ellison syndrome 2 4 -1.7424740303363713 0.0814255318238459 |
| Abnormality of vitamin d metabolism 7 13 1.7419348161422803 0.0815198508969876 |
| Scleroderma 4 6 1.7405119427120668 0.0817691648701681 |
| Glucose intolerance 70 160 1.7376116700301585 0.0822792621301884 |
| Iris atrophy 1 2 -1.7372229445845415 0.0823478264657175 |
| Enlarged cerebellum 1 2 -1.737222944584519 0.0823478264657215 |
| Renal angiomyolipoma 2 2 -1.7365270981146987 0.0824706772293404 |
| Athetosis 7 20 1.7344252564482343 0.0828426569952758 |
| 2 3 toe cutaneous syndactyly 1 3 1.7336587377196704 0.0829786518435318 |
| Broad long bones 21 69 -1.7311275727862183 0.0834290135640027 |
| Webbed neck 25 53 1.7309762797128083 0.0834559952166333 |
| Abnormal soft palate morphology 52 107 1.729792530698725 0.0836673494338502 |
| Abnormality of the philtrum 135 326 1.729555068365792 0.0837097996471876 |
| Multiple rows of eyelashes 2 3 1.7294819796341407 0.0837228689435547 |
| Abnormal circulating bilirubin concentration 22 36 1.728314575282654 0.0839318413451937 |
| Long thorax 2 6 -1.7272155008263943 0.0841289679990469 |
| Abnormal myocardium morphology 122 268 1.7257594823410514 0.0843906919216508 |
| Abnormal blood ion concentration 49 105 1.7248816006737548 0.0845488120475448 |
| Achromatopsia 0 1 1.7247578107389534 0.0845711278084277 |
| Cystic liver disease 10 16 -1.7247052568370371 0.0845806032045939 |
| Wheezing 3 5 -1.724422976877661 0.0846315125901973 |
| Abnormal atrial arrangement 3 5 -1.724422976877661 0.0846315125901973 |
| Decerebrate rigidity 3 5 1.7241072704215017 0.0846884798317422 |
| Cerebral palsy 8 20 -1.7230270162981505 0.0848836395880328 |
| Metatarsus valgus 6 8 -1.721519998428513 0.0851565064176709 |
| Suicidal ideation 1 3 1.7209660517546714 0.0852569843698618 |
| Prominent crus of helix 0 2 1.7204727869562968 0.0853465361631078 |
| Malar rash 1 2 -1.7203963502198567 0.085360419988469 |
| Abnormal penis morphology 140 315 1.7202352618455503 0.0853896857573763 |
| Biliary tract abnormality 21 38 1.7200624498139585 0.0854210904424483 |
| Cerebral cortical hemiatrophy 1 3 -1.7194332849406762 0.085535505839329 |
| Failure of eruption of permanent teeth 1 3 1.7192147516473788 0.0855752757051884 |
| Abnormal cardiac ventricle morphology 133 311 1.71779245903474 0.085834477491429 |
| Broad toe 16 51 -1.7176440653313203 0.085861557602106 |
| Vitamin b12 deficiency 2 3 -1.716677187426873 0.0860381705565394 |
| Pancreatic fibrosis 6 7 -1.7155069292191196 0.0862523260756393 |
| Encephalocele 12 30 -1.7149352379392548 0.0863571011722812 |
| Pulmonary edema 3 6 -1.7144574241932455 0.0864447499718714 |
| Myalgia 25 65 1.714159843753461 0.0864993735805415 |
| Jerky ocular pursuit movements 0 1 1.7123745167306978 0.0868276721845751 |
| Motor tics 1 1 -1.7123427823997062 0.0868335168050808 |
| Cone shaped epiphysis 18 30 -1.7120869582455678 0.0868806444175906 |
| Peripheral neuropathy 78 253 1.7116937423063556 0.0869531224343467 |
| Tremor 102 269 1.7085738967983832 0.0875299073018631 |
| Pontocerebellar atrophy 1 2 1.7073529067336422 0.087756477905605 |
| Photopsia 3 6 -1.70673293382418 0.087871702900562 |
| Abnormality of muscle size 128 312 1.705469779222568 0.0881068439108867 |
| Abnormality of head blood vessel 19 38 1.7048161086165723 0.088228726234139 |
| Eeg with focal sharp slow waves 3 4 -1.701995679505966 0.0887561781871779 |
| Decreased circulating follicle stimulating hormone concentration 6 9 -1.701789302055079 0.0887948726458762 |
| Acantholysis 2 5 1.6993968527757606 0.0892444345734566 |
| Right ventricular cardiomyopathy 3 6 1.698820060011391 0.0893530927480439 |
| Dystonia 118 265 1.698484621104131 0.0894163328493569 |
| Abnormality of the musculature of the upper limbs 43 107 1.6981867111476712 0.0894725278568449 |
| Muscle fiber atrophy 16 29 1.6972641488089035 0.0896467319996179 |
| Aplasia hypoplasia of the earlobes 11 21 -1.6965870297093488 0.089774763667096 |
| Limitation of neck motion 4 8 -1.6933280690768069 0.0903930381637572 |
| Abnormal dental root morphology 10 19 -1.6928812935078972 0.0904780646930842 |
| Abnormal thyroid stimulating hormone level 4 6 -1.690946679544675 0.0908469868084402 |
| Abnormal blood chloride concentration 1 3 1.6897218629068085 0.0910811785568865 |
| Respiratory failure 32 99 1.6896490678721503 0.0910951126406693 |
| Myopathy 49 148 1.689360592281321 0.0911503481396218 |
| Abnormal shape of the palpebral fissure 9 24 -1.689216255456854 0.0911779949561433 |
| Abnormal bone structure 122 286 1.688667768752906 0.0912831156493472 |
| Lewy bodies 3 9 1.688266602508331 0.0913600631867865 |
| Progeroid facial appearance 6 9 1.6879688846926724 0.0914172020217036 |
| Acute coronary syndrome 14 27 1.6871201566368252 0.0915802499623681 |
| Low plasma citrulline 2 5 -1.687109647373931 0.0915822703458779 |
| Multiple glomerular cysts 2 5 -1.687109647373931 0.0915822703458779 |
| Stomach cancer 6 13 1.6868265609031867 0.0916367065997101 |
| Tricuspid valve prolapse 1 3 1.68361355111188 0.0922563781169478 |
| Recurrent mycobacterial infections 5 8 -1.680799483876367 0.0928018689486427 |
| Supranuclear gaze palsy 13 26 1.6798648189626952 0.0929836201503278 |
| Aplastic anemia 6 11 1.6778563638503583 0.0933751428969817 |
| Bifid uterus 2 3 -1.6772213003317142 0.0934992153178655 |
| Inappropriate antidiuretic hormone secretion 1 2 1.6762510166663698 0.093689035101157 |
| Abnormal fingertip morphology 16 54 -1.6757721040565414 0.0937828402200768 |
| Everted upper lip vermilion 4 10 -1.6752348705737188 0.0938881583409296 |
| Prenatal movement abnormality 34 88 1.6745799258310456 0.0940166806053233 |
| Abnormal salivary gland morphology 4 6 1.6743578056457618 0.0940603001041175 |
| Bicornuate uterus 9 18 -1.6740194229533147 0.0941267821802178 |
| Absent speech 75 174 1.6737122236958046 0.0941871702666814 |
| Abnormality of body mass index 2 3 1.6715038296424356 0.0946222029076055 |
| Oral cleft 89 255 1.6714029036649865 0.0946421227795026 |
| Intraalveolar phospholipid accumulation 1 2 -1.6698683174067506 0.0949454199957937 |
| Non midline cleft palate 3 6 -1.669706894724868 0.0949773689549391 |
| Gastrointestinal stroma tumor 5 9 -1.6696579832840592 0.0949870512624921 |
| First degree atrioventricular block 7 9 -1.6694209702930485 0.0950339805793596 |
| Emotional lability 41 83 1.6672030358574133 0.0954740392896151 |
| Cerebral hypomyelination 11 22 1.666508709671831 0.0956121349023182 |
| Renal cortical cysts 4 7 1.6663242786331818 0.0956488435479543 |
| Akinesia 7 15 1.6659270462915423 0.0957279459032411 |
| Abnormal left atrium morphology 2 3 1.6658845914986349 0.0957364031811554 |
| Left atrial enlargement 2 3 1.6658845914986349 0.0957364031811554 |
| Tracheobronchomalacia 0 2 1.6651026219466996 0.0958922837327698 |
| Abnormality of fluid regulation 108 259 1.6650282065398332 0.0959071285416361 |
| Underdeveloped supraorbital ridges 9 26 -1.6648059955740888 0.095951467397541 |
| Abnormal large intestine morphology 51 121 1.664240257792124 0.0960644259251959 |
| Abnormality of exocrine pancreas physiology 13 26 1.6640344159210674 0.0961055519188383 |
| Dermoid cyst 1 1 -1.6638803529068762 0.096136342020457 |
| Rectal abscess 1 1 -1.6638803529068762 0.096136342020457 |
| Sea blue histiocytosis 2 3 1.6621376591945891 0.0964851762070675 |
| Osteoporosis 44 97 1.661115399614543 0.096690272192905 |
| Motor neuron atrophy 13 33 1.6587473787866214 0.09716670787809 |
| Tetraplegia tetraparesis 35 71 1.6577856235722568 0.0973607440866466 |
| Ocular pain 3 7 -1.656387037760161 0.0976434643971573 |
| Popliteal pterygium 1 1 -1.6557849880563071 0.0977653689322328 |
| Epicanthus 109 262 1.6555359154716949 0.0978158373244957 |
| Endocardial fibroelastosis 1 2 -1.6530351926669236 0.0983237013998867 |
| Abnormality of the musculature of the limbs 93 256 1.6528176566499289 0.0983679794999816 |
| Clubbing of toes 9 12 -1.652024673309835 0.0985295211577379 |
| Abnormality of malar bones 40 100 1.6498329622439298 0.0989771049826553 |
| Abnormal csf carboxylic acid concentration 5 8 1.6478339958429375 0.0993867408100581 |
| Low hanging columella 9 21 -1.6465444148071415 0.0996517237094085 |
| Arterial rupture 2 3 1.646206485747636 0.0997212544234908 |
| Abnormal autonomic nervous system physiology 27 47 1.6433194168941758 0.1003168629910309 |
| Abnormality of vitamin e metabolism 2 5 1.6426843502755502 0.1004482583763102 |
| Abnormally folded helix 10 28 1.6398856477629205 0.1010289455454174 |
| Cholangiocarcinoma 1 1 -1.637262167377966 0.1015757022989909 |
| Polyclonal elevation of igm 1 1 -1.637262167377966 0.1015757022989909 |
| Mandibular prognathia 25 80 -1.6370603051288224 0.10161786962784 |
| Spider hemangioma 1 2 -1.6358682922673191 0.1018671553416474 |
| Abnormal cartilage morphology 10 16 1.633051735994904 0.102458116130824 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 4 7 1.6328199481089465 0.1025068703425331 |
| Coronal cleft vertebrae 2 4 1.6325407425008571 0.1025656228924403 |
| Abnormality of lens shape 0 2 1.6313141584887645 0.1028240473735497 |
| Progressive spasticity 12 21 1.6312571318928264 0.1028360746844705 |
| Iris hypopigmentation 5 14 -1.6294809958018863 0.1032112347482046 |
| Aplasia hypoplasia of the retina 5 9 -1.6286655884408343 0.1033838312680803 |
| Motor regression 1 3 1.6261785051198965 0.1039116873945804 |
| Diffuse mesangial sclerosis 11 24 1.6259172687612191 0.1039672559989992 |
| Skin pit 8 23 -1.6254274101106232 0.1040715193862693 |
| Abnormality of globe size 50 123 -1.62530010913226 0.1040986282070217 |
| Abnormal neutrophil count 45 104 1.6245768907086735 0.1042527444901439 |
| Alzheimer disease 1 2 -1.6232971726478558 0.104525893668091 |
| Absent hand 3 5 -1.6232305632829926 0.1045401266371239 |
| Abnormal placental size 3 5 1.623000704267784 0.1045892543166751 |
| Reduced tendon reflexes 75 269 1.622277222383194 0.1047440034927782 |
| Eeg with frontal epileptiform discharges 1 2 1.6209532670773283 0.1050276616224914 |
| Neoplasm of the gastrointestinal tract 61 139 1.6205147516691574 0.1051217480917698 |
| Happy demeanor 4 8 -1.619840477315872 0.1052665487473354 |
| Abnormal renal physiology 112 258 1.619209391915419 0.1054022179191673 |
| Aplasia hypoplasia involving the musculature of the upper limbs 1 3 1.618074670393847 0.1056465065076586 |
| Truncus arteriosus 7 13 1.6172366018219535 0.105827218351798 |
| Median cleft lip 4 6 -1.6164980197006678 0.1059866812097571 |
| Abnormal scalp morphology 88 180 1.6162271981329843 0.1060452004031564 |
| Papillary renal cell carcinoma 4 6 1.615558602723428 0.1061897803836631 |
| Gastrointestinal infarctions 1 2 1.6149125274301548 0.10632963896238 |
| Bilateral tonic clonic seizure with generalized onset 9 19 -1.612316255429089 0.1068931377855197 |
| Puberty and gonadal disorders 114 249 1.612169535810406 0.1069250525417668 |
| Urethral obstruction 11 25 1.6121546764939505 0.106928285192168 |
| Abnormal ventricular septum morphology 104 238 1.611701634742271 0.1070268817903568 |
| Widely patent fontanelles and sutures 3 6 1.611661563008123 0.1070356061673527 |
| Neoplasm of the genitourinary tract 36 113 1.611264863614683 0.1071220055570765 |
| Laryngeal cleft 0 2 1.6111751169897937 0.1071415596405958 |
| Elevated circulating thyroid stimulating hormone concentration 3 4 -1.610453806594097 0.1072988221775432 |
| Tongue nodules 4 6 -1.609093890482776 0.1075958129717062 |
| Anterior plagiocephaly 2 3 -1.6081744469722037 0.1077969779514425 |
| Renal corticomedullary cysts 1 2 -1.6068501789960203 0.1080872376283288 |
| Partial albinism 1 3 -1.606680817036108 0.1081244038067561 |
| Skeletal muscle atrophy 107 260 1.6061217355022332 0.10824716506225 |
| Periventricular heterotopia 8 20 -1.6059133533491186 0.1082929491289652 |
| Abnormal peripheral nervous system morphology 89 267 1.6049439435687345 0.1085061416365356 |
| Abnormal granulocyte count 49 114 1.6043865898326397 0.1086288650890874 |
| Conical incisor 3 4 -1.603793170063194 0.1087596505819206 |
| Abnormal sputum 6 15 -1.603623291905298 0.1087971134428122 |
| Flared nostrils 3 5 1.602932203958919 0.1089496228071773 |
| Abnormality of the nasal skeleton 3 6 1.6024012287567238 0.1090669132978425 |
| Paroxysmal dystonia 3 5 -1.6020756047734577 0.1091388918344784 |
| Abnormal circulating hormone concentration 64 138 1.6016100203576449 0.1092418735947782 |
| Tapered distal phalanges of finger 1 3 1.6014446425639166 0.109278471692638 |
| Abnormal urine hormone level 1 3 1.6013011321961312 0.1093102383861936 |
| Increased urinary cortisol level 1 3 1.6013011321961312 0.1093102383861936 |
| Abnormal blood gas level 3 6 -1.6012678092367698 0.1093176156240849 |
| Chronic bronchitis 2 4 -1.5994399257771028 0.1097228868802133 |
| Abnormal circulating lipid concentration 63 115 1.5992894136442324 0.1097563106953347 |
| Lumbar kyphosis 1 3 1.5975608268411323 0.1101407503706091 |
| Overfriendliness 4 7 1.596183735110852 0.1104477778771726 |
| Nystagmus induced head nodding 4 7 1.596183735110852 0.1104477778771726 |
| Abnormality of the hairline 68 136 1.5958778252308146 0.1105160732541075 |
| Transient global amnesia 6 9 -1.595666059012335 0.1105633702852884 |
| Ankylosis 4 6 1.5952510346459563 0.1106561104730714 |
| Bifid epiglottis 1 3 -1.594665218063056 0.1107871199546624 |
| Abnormality of neutrophils 58 140 1.5928647739293915 0.1111905302225297 |
| Pollakisuria 3 4 1.59107138067892 0.1115935124451512 |
| Abnormality of the proximal phalanx of the thumb 0 3 1.590671261498702 0.1116835777782874 |
| Limb girdle muscular dystrophy 6 10 1.5896515368624629 0.1119133733238433 |
| Hypoglycorrhachia 2 3 -1.5894514907420123 0.1119584975643033 |
| Abnormality of ocular smooth pursuit 14 32 1.5893494701597617 0.1119815157890877 |
| Xerostomia 12 22 1.5890804350485055 0.1120422342912821 |
| Finger syndactyly 30 74 -1.588421162614816 0.1121911351904376 |
| Tetraparesis 27 55 1.587917085571859 0.1123050894572406 |
| Nocturnal seizures 0 2 1.5865414557087096 0.1126165358955697 |
| Hypoplastic vertebral bodies 3 7 1.5851675176054696 0.1129282785317182 |
| Porencephalic cyst 7 13 -1.5849640391798834 0.1129745049690729 |
| Meconium stained amniotic fluid 1 3 -1.5837872590438102 0.1132421396514846 |
| Simple febrile seizure 4 7 -1.5835424975383527 0.1132978683761458 |
| Generalized lipodystrophy 2 4 1.5834526910863551 0.1133183214494193 |
| Pulmonary embolism 8 11 -1.582760546120992 0.1134760524123932 |
| Labial hypertrophy 2 3 -1.581633499824207 0.1137332618306303 |
| Cafe au lait spot 30 93 -1.5802543659577517 0.114048625933935 |
| Abnormal cardiac atrium morphology 104 237 1.5788418915073286 0.1143723271769026 |
| Abnormal liver parenchyma morphology 3 4 -1.5774392369967796 0.1146944931150135 |
| Amblyopia 14 36 -1.5765786513069906 0.1148925082130229 |
| Hypertrichosis 72 151 1.5763350347397005 0.1149486115955784 |
| Staring gaze 2 4 -1.5746606822199778 0.1153347878502597 |
| Periventricular leukomalacia 9 22 1.5745184333155793 0.1153676434068797 |
| Dysphagia 79 210 1.573360271980244 0.1156354205710961 |
| Abnormality of the upper arm 16 29 1.5723327577799475 0.1158733998006356 |
| Non midline cleft lip 8 14 -1.571090937957497 0.11616152723334 |
| Abnormal blood glucose concentration 65 140 1.57074476485432 0.1162419466907829 |
| Hyperactivity 100 245 1.570427373791321 0.1163157182295551 |
| Mental deterioration 53 156 1.570341029346332 0.1163357937231832 |
| Short middle phalanx of finger 6 10 -1.5699707851558211 0.1164219081220341 |
| Calcinosis 4 6 1.5697867615347827 0.1164647284564313 |
| Posterior pharyngeal cleft 3 6 -1.569126372228982 0.116618495881597 |
| Abnormal circulating protein concentration 98 247 1.5687107195019794 0.1167153597018202 |
| Fatigable weakness of respiratory muscles 9 22 1.567007353839574 0.1171129727209119 |
| Mild short stature 2 4 1.56630484232816 0.1172772679192843 |
| Lymphangioma 1 3 1.5653420697389848 0.1175027237780002 |
| Hypoplastic hippocampus 2 5 -1.564051224842553 0.1178055391208894 |
| Osteolysis involving bones of the upper limbs 4 10 1.5638110219639796 0.1178619550903619 |
| Incoordination 45 108 1.5637419923942493 0.1178781718479247 |
| Limited wrist extension 2 2 -1.5615120830740512 0.1184029751431325 |
| Xanthelasma 2 4 -1.5611084094328451 0.1184981742487798 |
| Multiple suture craniosynostosis 2 6 1.5608892014610358 0.1185498956133359 |
| Tricuspid atresia 2 6 1.5608892014610358 0.1185498956133359 |
| Muscular hypotonia of the trunk 51 122 1.56031296223245 0.1186859416999865 |
| Blindness 56 122 1.5602377451757363 0.1187037089536511 |
| Abnormality of the fetal cardiovascular system 5 12 -1.5590521624442182 0.1189840346783439 |
| Tibialis muscle weakness 3 3 -1.558038628953317 0.1192240913058464 |
| Increased susceptibility to fractures 32 82 1.5573483736788576 0.1193877962433471 |
| Abnormal visual electrophysiology 35 77 1.556763438973636 0.1195266605639906 |
| Fatigable weakness of bulbar muscles 8 23 1.5562803195429051 0.1196414491865751 |
| Abnormality of the vasculature of the eye 56 117 1.555382445003514 0.119855012512543 |
| Overriding aorta 6 11 1.554391806989554 0.1200909863432704 |
| Encephalopathy 72 155 1.5521211146583882 0.1206332466679485 |
| Rigidity 33 82 1.5515872773650476 0.120761009291622 |
| Reduced factor viii activity 1 2 -1.5496707240054617 0.1212205683403682 |
| Prolonged bleeding following circumcision 1 2 -1.5496707240054617 0.1212205683403682 |
| Prolonged bleeding after surgery 1 2 -1.5496707240054617 0.1212205683403682 |
| Bleeding with minor or no trauma 1 2 -1.5496707240054617 0.1212205683403682 |
| Prolonged bleeding after dental extraction 1 2 -1.5496707240054617 0.1212205683403682 |
| Decreased activity of the pyruvate dehydrogenase complex 13 28 1.548250418074241 0.1215620168571658 |
| Proximal amyotrophy 12 18 1.54626424218146 0.1220407640422269 |
| Craniofacial osteosclerosis 0 3 1.5455904989887963 0.1222034972299643 |
| Temperature instability 5 10 1.5443807392012312 0.1224961232894812 |
| Abnormal urine ph 32 64 1.5443516705860714 0.1225031613612439 |
| Branchial anomaly 7 10 1.5442385916550232 0.1225305429543122 |
| Fasciculations 17 53 1.5413182148745717 0.1232393578811357 |
| Fine hair 15 33 -1.540886065680097 0.1233445177382246 |
| Frontal lobe dementia 4 7 -1.540769300266403 0.1233729436349082 |
| Laryngomalacia 16 30 -1.54053911279253 0.1234289964873385 |
| Increased total bilirubin 3 5 1.5400800263507517 0.1235408477965571 |
| Morphological abnormality of the vestibule of the inner ear 3 7 -1.5398859343560345 0.123588159945247 |
| Splenomegaly 61 133 1.5398407784784938 0.1235991692358735 |
| St segment elevation 5 8 -1.5395044972107332 0.1236811808320592 |
| Chronic rhinitis 3 7 -1.5394814537482926 0.1236868021797663 |
| Sleep disturbance 121 231 1.5393978125675765 0.1237072077404612 |
| Male sexual dysfunction 12 25 -1.5389492248241348 0.123816692504505 |
| Molar tooth sign on mri 7 13 -1.5380206474155125 0.1240435664356938 |
| Intracranial hemorrhage 20 48 -1.5364069545674406 0.12443860215372 |
| Abnormal mitochondria in muscle tissue 14 29 1.535757031427946 0.1245979817628688 |
| Thick corpus callosum 1 4 1.5356308793347846 0.1246289362804877 |
| Misalignment of incisors 3 6 1.5322741735465104 0.1254547914823549 |
| Abnormal lung development 28 75 1.5306175143359608 0.1258639505277394 |
| Lens luxation 3 3 -1.5305809056835065 0.1258730038002427 |
| Abnormality of the middle phalanx of the 5th finger 3 4 -1.530524380633135 0.1258869833685929 |
| Gastroesophageal reflux 83 192 1.5298406000377025 0.1260561893073983 |
| Lower extremity joint dislocation 50 121 1.5297694207021684 0.1260738132703578 |
| Kinetic tremor 23 50 1.5297244116208122 0.126084958483722 |
| Tracheal stenosis 8 13 -1.5288461757306897 0.1263025821263292 |
| Impaired use of nonverbal behaviors 0 2 1.5273117763982766 0.1266835025032491 |
| Cns hypomyelination 29 57 1.5251443088862464 0.1272231076208545 |
| Abnormal myeloid leukocyte morphology 64 159 1.5249591769042707 0.127269280205998 |
| Low frustration tolerance 5 11 1.5244584217963024 0.1273942356686361 |
| Abnormal internal genitalia 88 198 1.52384417145324 0.1275476423818167 |
| Abnormal subclavian artery morphology 3 4 -1.5237621729998343 0.1275681320543442 |
| Proportionate tall stature 3 5 -1.5236381699250958 0.1275991226534401 |
| Aplasia hypoplasia of the humerus 6 12 1.5232536777969308 0.1276952513833571 |
| Calcification of cartilage 1 2 -1.52297786444951 0.1277642434957484 |
| Brittle hair 13 20 1.5222074093666822 0.1279571191818485 |
| Cardiomegaly 28 51 1.5214353145304669 0.1281506324227419 |
| Restlessness 23 60 1.5211140266773595 0.1282312251007045 |
| Aphthous ulcer 4 9 1.5195004983598923 0.1286365626864887 |
| Abnormal circulating monocarboxylic acid cocentration 5 9 1.5189695208647231 0.1287701681017763 |
| Progressive spastic quadriplegia 7 10 1.5184772015923564 0.1288941425857697 |
| Kyphosis 114 235 1.517878939827884 0.1290449200089982 |
| Abnormal platelet granules 1 3 -1.5172834906862904 0.1291951245954896 |
| Onycholysis 4 5 1.5171939840929982 0.1292177147516962 |
| Abnormality of the ankles 28 63 1.5158229405906667 0.129564129655433 |
| Elevated urinary carboxylic acid 5 9 1.5155522849628198 0.1296326000494971 |
| Hypertrophic nerve changes 1 2 1.5150497259039335 0.129759811829361 |
| Neutrophilia 5 5 -1.514760369445229 0.1298331000099883 |
| Absence of pubertal development 3 6 1.5147011443113882 0.1298481045080142 |
| Hyporeflexia 56 185 1.5144663108520031 0.1299076120639997 |
| Reticulocytosis 6 16 1.5143355706144537 0.129940751234409 |
| Abnormality of the incisor 15 52 -1.5140373695015732 0.1300163618320207 |
| Limb tremor 5 7 1.513642666505039 0.1301164935431102 |
| Malignant hyperthermia 2 4 1.5126238743936644 0.1303752262621618 |
| Abnormal lung lobation 8 19 1.5117885721476785 0.1305876575287112 |
| Deep palmar crease 9 15 1.511635893627973 0.1306265152282497 |
| Recurrent sinusitis 5 13 -1.5116042604851374 0.1306345671952835 |
| Facial myokymia 2 3 -1.5111724936596136 0.1307445085330982 |
| Glutaric aciduria 3 6 1.5100680392929533 0.1310260637621607 |
| Chronic pulmonary obstruction 4 10 1.5094062886558477 0.1311949869872721 |
| Cutaneous photosensitivity 18 34 1.5089730145257485 0.1313056790988498 |
| Abnormal pelvis bone morphology 6 8 -1.50883988159753 0.1313397062035191 |
| Round face 19 41 -1.5087956460828706 0.1313510137585685 |
| Peripheral arterial stenosis 5 8 -1.50863207268828 0.1313928332143357 |
| Eclampsia 1 2 -1.5086067005318922 0.131399320828125 |
| Maternal hypertension 1 2 -1.5086067005318913 0.1313993208281252 |
| Aortic regurgitation 19 36 1.5082259420550912 0.1314967099004771 |
| Cavernous hemangioma 7 14 -1.508088668552565 0.131531834956553 |
| Generalized osteosclerosis 2 3 1.5071434475724408 0.1317738922255811 |
| Bronchiectasis 10 33 -1.5058723677283654 0.1320999412605323 |
| Spinal muscular atrophy 6 16 1.5057921492172175 0.1321205393340512 |
| Increased circulating lactate dehydrogenase concentration 8 21 1.5042185496398348 0.1325251030433609 |
| Microretrognathia 11 31 -1.5025608669578607 0.1329523210407539 |
| Dermal atrophy 24 38 1.501229829924619 0.1332961270469568 |
| Hoarse cry 1 2 1.500904210534374 0.1333803389887728 |
| Abnormality of the middle ear 79 205 1.5008879604597238 0.1333845426741877 |
| Ocular anterior segment dysgenesis 47 145 1.5007594529075066 0.1334177895374166 |
| Tubulointerstitial nephritis 4 8 1.5005151621509023 0.1334810089634199 |
| Abnormal pigmentation of the oral mucosa 2 3 -1.500454915251355 0.1334966036785494 |
| Thin clavicles 2 4 1.4985854362014597 0.1339812132398892 |
| Soft skin 7 10 1.497723915552526 0.1342049956046518 |
| Abnormal cardiac test 17 36 -1.4970739830327584 0.1343740085656544 |
| Spotty hypopigmentation 2 4 -1.4967572303956616 0.1344564387455213 |
| Renal agenesis 24 82 1.4966337986627054 0.1344885706083782 |
| Abnormal muscle fiber morphology 49 106 1.4961776824771718 0.1346073586993774 |
| Enchondroma 8 11 1.4953599809226803 0.1348205188800679 |
| Abnormal urine carboxylic acid level 17 33 1.4951625730432248 0.1348720186607228 |
| Abnormality of the urethra 56 213 1.4945613394005113 0.1350289622045866 |
| Pyoderma gangrenosum 1 3 1.4940800629371231 0.1351546942920523 |
| Slow saccadic eye movements 8 17 1.4934212254128596 0.1353269603501923 |
| Abnormality of skull ossification 10 20 1.4933517415043551 0.135345138171592 |
| Systemic lupus erythematosus 4 7 1.4921810466532888 0.135651689652525 |
| Hypomethioninemia 4 5 -1.4914786774090665 0.1358358652724622 |
| Cataplexy 3 4 1.4890109901459447 0.1364844747363909 |
| Abnormal circulating gaba concentration 1 2 1.4887760769137857 0.1365463439620695 |
| Cleft hard palate 3 4 -1.488707172690065 0.1365644954096352 |
| Elevated urinary dicarboxylic acid level 2 3 1.4883156694307949 0.1366676645076416 |
| Porphyrinuria 2 3 1.4883156694307949 0.1366676645076416 |
| Respiratory paralysis 2 3 1.4883156694307949 0.1366676645076416 |
| Crumpled long bones 1 3 1.4878592119516474 0.1367880262939069 |
| Chorea 56 125 1.487820836571071 0.1367981490989305 |
| Incisor macrodontia 10 32 -1.4876002739213252 0.1368563411684022 |
| Broad chin 1 3 -1.486320807061879 0.1371942856612187 |
| Pectus excavatum of inferior sternum 1 3 1.485737737500603 0.1373485046597702 |
| Bone fracture 4 8 1.4855498082845997 0.1373982394812154 |
| Displacement of the urethral meatus 53 193 1.4854428810620428 0.1374265436016639 |
| Abnormal pyramidal sign 77 198 1.4836790224233527 0.1378940940670545 |
| Phenotypic variability 66 155 1.4836069592960877 0.1379132220605079 |
| Abnormal neuron morphology 16 44 1.4835762859575607 0.1379213644234158 |
| Abnormality of metacarpal epiphyses 4 6 1.4835515254559153 0.1379279374699191 |
| Hemolytic anemia 26 47 1.4834625879897294 0.1379515492454255 |
| Absent frontal sinuses 0 3 1.4827811490837566 0.1381325660794878 |
| Iridocyclitis 1 2 -1.482549154097473 0.1381942347749194 |
| Coma 25 49 1.4825369773961397 0.138197472160471 |
| Abnormality of the voice 85 211 1.4824717617243948 0.1382148118635706 |
| Abnormal myeloid cell morphology 3 4 1.4819675622879307 0.1383489262403436 |
| Abnormal meningeal morphology 17 44 -1.4813514957263902 0.1385129327628567 |
| Poor eye contact 27 55 1.4792910173025715 0.1390625525957187 |
| Gonosomal inheritance 42 107 1.479097123447852 0.1391143589063657 |
| Cerebellar atrophy 117 215 1.4790120608021011 0.1391370914013581 |
| Prematurely aged appearance 33 62 1.4744892841392765 0.1403499008062962 |
| Abnormal morphology of the choroidal vasculature 4 5 -1.473874573012036 0.1405153650187047 |
| Decreased circulating gonadotropin concentration 6 10 -1.4732033311271595 0.1406962171428898 |
| Pseudobulbar paralysis 5 9 1.4701911186698997 0.141509999414489 |
| Hyperacusis 6 10 1.470069975908168 0.1415428029544161 |
| Abnormality of the basal ganglia 51 128 1.4699567561558364 0.1415734663507353 |
| Abnormality of skin physiology 68 150 1.4697242640926704 0.141636448363559 |
| Abnormal leukocyte count 66 179 1.4677350894334302 0.1421761953542588 |
| Chronic sinusitis 4 9 -1.467423020939056 0.1422610158498929 |
| Horseshoe kidney 25 62 1.4665501128160594 0.1424984794140638 |
| Abnormal tarsal ossification 3 3 -1.4656480121969135 0.1427442040445765 |
| Recurrent bacterial infections 16 39 -1.4646728985392896 0.1430101824569305 |
| Abnormal vertebral morphology 67 178 1.464028856258563 0.1431860641021201 |
| Distal amyotrophy 50 87 1.4636963411379451 0.143276935666877 |
| Cervical spine instability 1 2 1.463500651012785 0.1433304356203577 |
| Skin erosion 4 9 1.4634662683142563 0.1433398371294409 |
| Neoplasm by histology 68 163 1.4617982760423092 0.1437964966800395 |
| Carcinoma 4 7 1.4613047576761224 0.1439318247955749 |
| Nail dystrophy 21 42 1.460596709251335 0.144126149916266 |
| Neoplasm of the inner ear 1 3 1.4605397741334338 0.1441417845910511 |
| Elbow flexion contracture 21 36 1.4600453458295617 0.1442776118103848 |
| Prominent digit pad 12 41 -1.459930625378278 0.1443091413382577 |
| Elevated hepatic transaminase 69 153 1.4596930800419936 0.1443744445893613 |
| Malnutrition 4 9 1.459078313635239 0.1445435543082256 |
| Hepatic cysts 5 11 -1.457759293011001 0.1449069022218434 |
| Long clavicles 2 4 1.4572046985322524 0.1450598840211476 |
| Elevated total serum tryptase 2 2 -1.456881832126387 0.1451490018797148 |
| Abnormal mast cell morphology 2 2 -1.456881832126387 0.1451490018797148 |
| Anaphylactic shock 2 2 -1.456881832126387 0.1451490018797148 |
| Increased proportion of cd25 mast cells 2 2 -1.456881832126387 0.1451490018797148 |
| Premature loss of teeth 8 16 1.456641197858005 0.1452154492238526 |
| Atypical absence seizure 4 7 -1.4565466605940238 0.1452415605662635 |
| Arterial stenosis 14 30 -1.4551421133610745 0.1456299224424468 |
| Acute hepatic failure 11 18 1.4541707935631705 0.1458989602062197 |
| Sclerosis of skull base 2 4 1.4537836755111566 0.146006290769169 |
| Abnormal thumb morphology 53 188 1.4534270158392248 0.1461052300591936 |
| Abnormal nerve conduction velocity 16 63 1.4533543690354684 0.1461253889573974 |
| Long philtrum 84 203 1.453310586404503 0.1461375393099675 |
| Aplasia hypoplasia of metatarsal bones 9 19 -1.4531519262732695 0.1461815764108867 |
| Ventricular escape rhythm 4 6 1.451815830375713 0.1465528210138837 |
| Hemiplegia hemiparesis 34 77 -1.4511507327150135 0.146737892228989 |
| Abnormally low pitched voice 3 9 1.4503184937807838 0.1469697241893302 |
| Thin bony cortex 0 2 1.4495228274972778 0.1471916301233551 |
| Delirium 1 3 1.4492384030219638 0.1472710163051913 |
| Constriction of peripheral visual field 15 30 1.4490078729589453 0.1473353839433946 |
| Thin ribs 9 21 1.4473062156472525 0.1478111790492255 |
| Neonatal asphyxia 3 7 1.4465522230800052 0.1480223755747398 |
| Narrow foot 1 2 1.446308188760819 0.1480907799882516 |
| Frontotemporal cerebral atrophy 4 9 -1.4455597128125417 0.1483007333140495 |
| Increased csf lactate 40 74 1.444571142957123 0.1485783832104197 |
| Progressive peripheral neuropathy 2 4 1.444058796538253 0.14872243700293 |
| Gray matter heterotopia 23 58 -1.4436633126338043 0.1488337060784408 |
| Thoracic scoliosis 8 16 1.4433347339700364 0.148926199748453 |
| Large foramen magnum 2 4 -1.4399548680247214 0.1498801682188859 |
| Metopic synostosis 3 6 -1.4365880471551116 0.1508350819239292 |
| Carious teeth 33 65 1.4364792113394649 0.1508660276433127 |
| Subcortical band heterotopia 2 5 1.4363064855531804 0.1509151493843479 |
| Abnormal elasticity of skin 39 94 1.4362991250108132 0.1509172429305894 |
| Abnormal renal cortex morphology 37 83 1.436276875645235 0.1509235714134458 |
| Abnormality of the nail 82 185 1.4355641967735242 0.1511263887401215 |
| Decreased adenosylcobalamin 5 6 -1.4339150486142835 0.1515965068878664 |
| Exertional dyspnea 14 37 -1.433100752290581 0.1518290464941118 |
| Ovotestis 0 2 1.4329994352233202 0.1518579987244357 |
| Acute lymphoblastic leukemia 6 22 1.4296722124373382 0.1528111191378292 |
| Aplasia of the uterus 6 9 1.4292019967036869 0.1529461839881936 |
| Paraparesis 17 44 1.4285413405881229 0.1531361043810275 |
| Psoriasiform dermatitis 5 9 -1.4284376786406126 0.1531659206030433 |
| Avascular necrosis of the capital femoral epiphysis 6 9 -1.42780082864897 0.1533491942729132 |
| Abnormal circulating acetylcarnitine concentration 5 10 1.424767204033487 0.15422450542246 |
| Pulmonary interstitial high resolution computed tomography abnormality 3 7 -1.4244872402353843 0.1543054761411784 |
| Erythematous plaque 2 3 -1.4244500259404305 0.1543162416367425 |
| Viral infection induced rhabdomyolysis 2 3 -1.423933557176824 0.1544657066497743 |
| Abnormal peripheral action potential amplitude 7 12 1.4238867696253563 0.1544792523035862 |
| Extra axial cerebrospinal fluid accumulation 2 4 -1.4237847706502371 0.154508785568818 |
| Abnormal dental pulp morphology 9 18 -1.4228478703037748 0.1547802608075688 |
| Perisylvian polymicrogyria 4 5 1.4185410348342673 0.1560328671759996 |
| Limitation of joint mobility 80 149 1.418495431334459 0.1560461715934924 |
| Abnormal larynx physiology 8 23 1.418223244178344 0.1561255976870597 |
| Postexertional malaise 1 2 -1.4175979459004728 0.1563081802036507 |
| Abnormality of vitamin k metabolism 2 6 1.4173300500868298 0.1563864533595307 |
| Abnormality of the alveolar ridges 8 16 -1.4161918112160932 0.1567193527891011 |
| Abnormal morphology of the olfactory bulb 2 4 1.4161739663738109 0.1567245761245819 |
| Testicular atrophy 3 6 1.415655891978406 0.1568762784124362 |
| Enlargement of the costochondral junction 1 4 1.4152710461140858 0.1569890408337475 |
| Abnormality of the costochondral junction 1 4 1.4152710461140852 0.1569890408337477 |
| Abnormality of small intestinal villus morphology 5 9 1.414735858766205 0.1571459564433941 |
| Microvesicular hepatic steatosis 8 13 1.414474860258252 0.1572225236734588 |
| Abnormal eyelash morphology 58 122 1.4143786382266734 0.1572507587621188 |
| Hip dislocation 41 96 1.4142167889707282 0.1572982599643226 |
| Spinal cord tumor 4 6 -1.4142006466709816 0.1573029981705862 |
| Congenital hypothyroidism 5 9 -1.41317784775818 0.1576034382188578 |
| Abnormal fear anxiety related behavior 74 177 1.4126319630713196 0.1577639658815701 |
| Atlantoaxial dislocation 2 4 -1.412441803884479 0.157819914848595 |
| Severe hearing impairment 2 4 -1.4123619189644825 0.157843423211768 |
| Tendon xanthomatosis 2 4 -1.4117968777002723 0.1580097780870581 |
| Chronic kidney disease 22 54 1.4116106417913927 0.1580646372426604 |
| Cns demyelination 11 19 1.4110818772084552 0.1582204730345568 |
| Developmental stagnation 6 10 1.4108888315961203 0.1582773957972263 |
| Constipation 58 153 1.4101042584788557 0.1585089000377972 |
| Abnormal nephron morphology 41 97 1.409360130028013 0.1587287070423462 |
| Contractures of the joints of the lower limbs 39 81 1.409253484631389 0.158760227761793 |
| Facial hypertrichosis 44 86 1.4089079448705124 0.1588623900020751 |
| Stereotypical body rocking 2 3 -1.4074302645386674 0.1592998421907969 |
| Cholestasis 53 116 1.4059710332890911 0.1597327264580108 |
| Pain in head and neck region 8 15 -1.4059651458898448 0.1597344747684512 |
| Anisocoria 4 5 1.4047173488988096 0.1601053447577562 |
| Abnormal hair pattern 82 182 1.403886266111657 0.160352719980777 |
| Episodic pain 8 20 1.4033349256424918 0.160516988078764 |
| Gait imbalance 14 31 1.4029257344810255 0.1606389859659998 |
| Abnormal pulmonary valve physiology 14 59 -1.4029102055995348 0.16064361718837 |
| Multifocal seizures 3 6 1.4020663935024502 0.1608954213872373 |
| Abnormal subarachnoid space morphology 17 56 -1.401485724771069 0.1610688734082912 |
| Diminished motivation 13 37 1.400983880030736 0.1612188936097447 |
| Abnormality of urinary uric acid concentration 1 4 1.4000055238898603 0.1615116643178797 |
| Low grade fever 1 2 -1.3992489964353731 0.1617383284347995 |
| Abnormality of the epididymis 2 4 -1.3984523404638838 0.1619772750136765 |
| Abnormality of the parathyroid morphology 3 9 1.397268002950335 0.1623329939841169 |
| Abnormal dermoepidermal junction morphology 2 4 1.3970203528719205 0.1624074508144279 |
| Dysphasia 12 27 1.3946410113620913 0.1631241213825482 |
| Spastic tetraplegia 26 59 1.394358632691881 0.1632093334231976 |
| Thoracolumbar kyphoscoliosis 3 4 -1.3938550124391182 0.163361391762483 |
| Lipodystrophy 21 55 1.3937887336272805 0.1633814113106919 |
| Pyridoxine responsive sideroblastic anemia 8 11 -1.3934106891890838 0.1634956351841847 |
| Hepatocellular carcinoma 15 29 1.3931021245203263 0.1635889107689219 |
| Poor head control 50 108 1.3930420616656598 0.1636070717484572 |
| Abnormality of the distal phalanx of the thumb 6 11 -1.392029267445827 0.1639135354266343 |
| Shyness 3 7 -1.3919186499220253 0.1639470336169384 |
| Glaucoma 61 147 1.391458749473718 0.1640863601011839 |
| Monochromacy 1 2 1.3906713781806563 0.1643251006961015 |
| Bilateral sensorineural hearing impairment 11 37 1.389278620464124 0.1647480424630163 |
| Polyhydramnios 33 95 -1.388820559328538 0.1648873218554007 |
| Enthesitis 2 3 -1.3887009567502513 0.164923703152449 |
| Abnormal gastrointestinal motility 20 40 1.3885165730789375 0.1649798017186627 |
| Tetraplegia 11 17 1.3882892274449383 0.1650489911980326 |
| Abnormality of dental structure 56 119 1.3879713008250072 0.1651457843683648 |
| Pulmonary hypoplasia 17 42 1.38716944051733 0.1653901015529926 |
| Sparse or absent eyelashes 15 38 1.3866529544741852 0.1655476125989643 |
| Thickened cortex of long bones 0 3 1.3864723453344765 0.1656027190013262 |
| Chronic oral candidiasis 2 5 1.3864073547616356 0.1656225519205616 |
| Tongue atrophy 3 5 1.3858540399855264 0.165791477212724 |
| Rhabdomyolysis 8 20 1.3858432463585202 0.1657947737621219 |
| Laryngotracheomalacia 2 6 1.385265216570179 0.165971385508548 |
| Recurrent opportunistic infections 1 2 1.3846017459629054 0.1661742773109193 |
| Renal malrotation 1 2 -1.382411336401824 0.1668454372547045 |
| Triangular shaped phalanges of the hand 34 109 1.3822096867536946 0.166907326675064 |
| Abnormal central sensory function 5 9 -1.3818136909652157 0.1670289141637657 |
| Focal aware seizure 3 6 -1.3811918438453925 0.1672199818967779 |
| Concentric hypertrophic cardiomyopathy 3 7 -1.3811121167238989 0.1672444905947534 |
| Pes cavus 42 156 1.378762106242212 0.1679681137166744 |
| Cone cone rod dystrophy 2 4 -1.3784760670385945 0.1680563521159683 |
| Laryngeal dystonia 3 6 -1.3783701295343564 0.168089040927567 |
| Patellar dislocation 13 30 1.3780816426996625 0.1681780826280861 |
| Infantile encephalopathy 2 3 -1.375698719611621 0.1689149285249307 |
| Polyphagia 8 18 -1.375200315652826 0.1690693504886062 |
| Abnormal urine protein level 33 96 1.3746385357867723 0.1692435353263375 |
| Visual acuity test abnormality 7 10 -1.3746332250607225 0.1692451826061087 |
| Jerky head movements 1 3 1.3745559444194866 0.1692691548582048 |
| Social and occupational deterioration 3 5 -1.3741304736968685 0.1694011803686095 |
| Anodontia 1 3 1.3738092279817913 0.1695009155386559 |
| Absent testis 6 12 -1.3735155368954666 0.1695921345167192 |
| Facial capillary hemangioma 5 7 -1.373286061398481 0.169663434067615 |
| Severe failure to thrive 1 4 1.372520056556265 0.1699015995545889 |
| Anonychia 8 22 1.3716891361342674 0.1701602318100428 |
| Abnormality of the peripheral nervous system 53 164 1.3715878341718146 0.1701917832227419 |
| Abnormal lactate dehydrogenase level 11 30 1.3714680383370108 0.170229100377167 |
| External ear malformation 12 36 -1.3708329576457563 0.1704270344246596 |
| Congenital ptosis 2 2 -1.3705985108973904 0.1705001474337253 |
| Babinski sign 55 141 1.3704425392165966 0.1705488007440914 |
| Abnormality of fibula morphology 8 17 1.3704246774102349 0.1705543731629235 |
| Nemaline bodies 3 4 1.370182494117251 0.1706299415125216 |
| Mortality aging 82 165 1.3701072017132332 0.170653440079717 |
| Esophageal neoplasm 4 10 1.3681202390085143 0.1712744425589809 |
| Proximal muscle weakness in upper limbs 12 18 1.367803149059991 0.1713737017515624 |
| Abnormal heart sound 7 13 -1.3674863318391692 0.1714729185758985 |
| Astigmatism 24 93 -1.3673626893261073 0.1715116510431171 |
| Hypothalamic hamartoma 3 5 -1.366779847652542 0.1716943212375401 |
| Cutaneous finger syndactyly 3 6 -1.3650551463146816 0.1722357181246048 |
| Progressive night blindness 13 23 1.364437340747375 0.1724299623572438 |
| Decreased circulating total igg 2 3 -1.364136481219301 0.1725246148992822 |
| Somatic sensory dysfunction 78 163 1.363952086225072 0.1725826460767743 |
| Optic nerve dysplasia 0 3 1.3633267372137656 0.1727795591444936 |
| Abnormality of the 3rd toe 0 3 1.3627728414182192 0.1729541129209355 |
| Aplasia hypoplasia of the nails 44 104 1.3620629472211676 0.1731780204940425 |
| Abnormal urine carbohydrate level 7 18 1.3620251404938435 0.1731899511798096 |
| Neoplasm of the adrenal gland 8 20 1.3614944816967092 0.1733574762501817 |
| Abnormality of the foot musculature 1 4 1.3606999009685117 0.1736085459219247 |
| Double aortic arch 2 2 -1.360050770742642 0.1738138580686186 |
| Right aortic arch with mirror image branching 2 2 -1.360050770742642 0.1738138580686186 |
| Unilateral primary pulmonary dysgenesis 2 2 -1.360050770742642 0.1738138580686186 |
| Abnormal aortic morphology 43 176 1.359419314275871 0.1740137542166273 |
| Sparse body hair 5 14 1.359362857566239 0.1740316347165367 |
| Ketoacidosis 8 11 1.3586349023032434 0.1742623095986935 |
| Generalized edema 4 10 -1.3582080084982269 0.1743976901228248 |
| Pseudobulbar signs 9 13 1.3574611287674865 0.1746347364222367 |
| Abnormality of the chin 58 154 -1.3565801222737857 0.1749146612744694 |
| Aplasia cutis congenita 6 15 1.3564903586847097 0.1749432009186486 |
| Macule 38 124 -1.3551828004006046 0.1753593231587771 |
| Speech articulation difficulties 3 6 1.3551268958150389 0.175377130890415 |
| Exercise induced muscle cramps 4 7 1.3547690530951413 0.1754911493321649 |
| Abnormal circulating phenylalanine concentration 1 3 1.3544942725107336 0.1755787394414061 |
| Neurogenic bladder 8 19 -1.35387651296885 0.1757757778963793 |
| Late onset 8 12 1.3535992660899292 0.1758642612006706 |
| Scleral staphyloma 3 4 1.35347610437926 0.1759035788978717 |
| Spinal cord lesion 10 17 -1.3527201946355083 0.1761450363675323 |
| Shock 1 5 1.3524117170761036 0.1762436431865768 |
| Short proximal phalanx of finger 0 2 1.3521410407650785 0.1763302004872469 |
| Deviated nasal septum 2 4 -1.351666193717008 0.1764821243827672 |
| Abnormality of temperature regulation 62 166 1.3514197454969137 0.1765610121647225 |
| Striae distensae 7 11 1.35115890494682 0.1766445355395656 |
| Stiff skin 1 3 1.3493446761857204 0.1772262818981018 |
| Gait ataxia 45 109 1.348588733230362 0.1774691015511145 |
| Hyperphenylalaninemia 1 2 1.3481895444721523 0.177597426588675 |
| X linked recessive inheritance 32 81 1.3468266888716864 0.178036056982914 |
| Thin upper lip vermilion 56 154 1.3467228586366655 0.1780695074152702 |
| Dysdiadochokinesis 12 21 1.3460643763927145 0.1782817560370588 |
| Dementia 32 95 1.3457002296035354 0.1783992123099129 |
| Aplasia hypoplasia of fingers 43 153 1.3453703417476164 0.1785056679969803 |
| Lingual dystonia 2 2 -1.3442200097395838 0.1788772529604785 |
| Low alkaline phosphatase 3 5 1.3440517255898716 0.1789316610012328 |
| Elevated serum acid phosphatase 3 4 1.3438076999310913 0.179010578934383 |
| Erlenmeyer flask deformity of the femurs 3 4 1.3438076999310626 0.1790105789343923 |
| Aplasia hypoplasia of the patella 5 13 -1.342381128797994 0.1794724503113367 |
| Abnormal stomach morphology 49 126 1.341910783645386 0.1796249248409669 |
| Short columella 2 5 -1.3411289357635323 0.1798785940515876 |
| Broad hallux phalanx 3 5 -1.341026618022154 0.179911810557845 |
| Hyperextensibility at wrists 1 2 -1.340067501610998 0.1802234004651914 |
| Thickened skin 72 169 1.3387315059492897 0.1806580957530315 |
| Profound sensorineural hearing impairment 3 5 1.3385548244014371 0.1807156411894306 |
| Limb girdle muscle atrophy 6 18 1.3382245042858607 0.1808232634421076 |
| Difficulty standing 4 7 1.3381694418324743 0.1808412080762242 |
| Joint laxity 51 114 1.3367367903511165 0.1813085683783482 |
| Immunodeficiency 37 100 1.336038534015808 0.1815366786020469 |
| Preaxial hand polydactyly 13 22 -1.3358844996006902 0.1815870280730729 |
| Hypomelanotic macule 0 2 1.3354413650398431 0.1817319339478826 |
| Fatigable weakness of swallowing muscles 8 20 1.3351266609822323 0.1818348948835018 |
| Abnormal retinal vascular morphology 38 84 1.3346070305767224 0.1820049957695553 |
| Fractures of the long bones 2 4 1.3335543831385233 0.182349941346533 |
| Impacted tooth 2 4 1.330620367048113 0.1833139574318729 |
| Abnormal speech prosody 4 11 1.330576732051804 0.1833283228226203 |
| Tooth malposition 65 146 1.3305731475262002 0.1833295029471298 |
| Tremor by anatomical site 17 37 1.3289020936785632 0.1838802730135786 |
| Lens subluxation 4 7 -1.328864328698268 0.1838927342853802 |
| Hypertriglyceridemia 12 32 1.3287821410105836 0.1839198558338608 |
| Abnormal basal ganglia mri signal intensity 17 42 1.327318196425865 0.1844034470388686 |
| Colpocephaly 5 10 1.3265545581400984 0.1846560762437312 |
| Ileus 3 4 1.326236834095447 0.1847612621269256 |
| Elevated urinary delta aminolevulinic acid 3 4 1.3262368340954434 0.1847612621269267 |
| Abnormal circulating porphyrin concentration 3 4 1.3262368340954434 0.1847612621269267 |
| Abnormality of the anterior fontanelle 21 54 1.3261358003726278 0.1847947196920805 |
| Headache 34 110 1.3245829921308827 0.185309500038697 |
| Dystrophic fingernails 7 11 1.3244393613018954 0.1853571694557096 |
| Abnormal periventricular white matter morphology 21 63 1.3243061598068977 0.185401385602095 |
| Abnormal platelet function 5 12 -1.3240514722612864 0.1854859506777022 |
| Hodgkin lymphoma 6 12 1.3231902730881313 0.1857721098975551 |
| Impaired temperature sensation 5 7 1.322383908857821 0.1860403443344673 |
| Increased bone mineral density 20 37 1.322146472264926 0.1861193813775679 |
| Abnormality of the synovia 51 135 1.3215158661527415 0.1863294157676285 |
| Smooth philtrum 49 109 1.3202127927615934 0.1867639819762241 |
| Cyanosis 7 29 -1.3201904382989509 0.1867714435657634 |
| Vaginal neoplasm 3 5 1.3186583442207758 0.1872833588315519 |
| Muscle flaccidity 4 6 -1.3186221751745515 0.1872954564215192 |
| Cachexia 16 27 1.3181137199524076 0.1874655823273778 |
| Dysmetria 32 85 1.317511659159998 0.1876671755545753 |
| Spinal cord compression 8 12 -1.3174149707022356 0.1876995654948288 |
| Vocal cord paralysis 13 26 1.3168212526038163 0.187898547266931 |
| Limb ataxia 14 36 1.3159821110714818 0.1881800469604466 |
| Fever 38 133 1.3159539966426586 0.1881894836535675 |
| Photophobia 26 56 1.3159182467050947 0.1882014837325532 |
| Minimal change glomerulonephritis 10 19 1.3151037082836408 0.1884750504961685 |
| Abnormal circulating fatty acid anion concentration 7 18 1.3141631048628175 0.1887913216045609 |
| Functional abnormality of the middle ear 49 146 1.314123538395019 0.1888046341159541 |
| Pedal edema 4 13 -1.3129156972583984 0.1892113568290554 |
| Abnormal oral glucose tolerance 2 2 -1.312527960339669 0.1893420583708656 |
| Transient neonatal diabetes mellitus 2 2 -1.312527960339669 0.1893420583708656 |
| Onychomycosis 2 4 -1.312200528787263 0.1894524835001556 |
| Subvalvular aortic stenosis 3 5 1.3119658189058143 0.1895316677747418 |
| Hypoplastic toenails 17 36 1.3108352346459713 0.1899134356765532 |
| Renal hypoplasia aplasia 45 137 1.3098502493614934 0.1902465002305446 |
| Abnormality of bone marrow cell morphology 38 85 1.3091366516060992 0.1904880659460293 |
| Abnormal circulating amino acid concentration 41 79 1.3074303229247128 0.191066604543117 |
| Knee flexion contracture 21 37 1.3069715101869712 0.1912223874917482 |
| Simple ear 3 6 1.3065169801487084 0.1913768084540421 |
| Red eye 15 26 1.3060712630093327 0.1915283244224368 |
| Foot acroosteolysis 2 6 1.3056294234390609 0.1916786093405718 |
| Osteolysis involving bones of the feet 2 6 1.3056294234390609 0.1916786093405718 |
| Malabsorption 34 83 1.305611661498955 0.1916846526036977 |
| Abnormal systemic blood pressure 56 150 1.3044850801112569 0.1920682432907745 |
| Abnormal form of the vertebral bodies 51 140 1.303673911280529 0.192344788194839 |
| Celiac disease 3 7 -1.303611866297262 0.1923659527089234 |
| Dicarboxylic aciduria 20 36 1.3035350427226615 0.1923921608037493 |
| Facial telangiectasia 2 7 -1.3031229649950469 0.1925327844852562 |
| Motor axonal neuropathy 15 22 1.302963536653823 0.1925872105048724 |
| Abnormality of the ureter 46 128 -1.302435419594176 0.1927675811103091 |
| Abnormal activity of mitochondrial respiratory chain 37 78 1.3014673715459373 0.1930985259383861 |
| Abnormal urine magnesium concentration 0 2 1.3013364529151312 0.1931433148755492 |
| Duodenal stenosis 5 11 -1.3000420112947806 0.1935865707315383 |
| Abnormal cardiac exercise stress test 2 2 -1.298783199789437 0.1940183417674039 |
| Abnormal circulating albumin concentration 17 47 1.2980398708604175 0.1942736345506979 |
| Abnormality of the pulmonary vasculature 20 76 -1.2979377839669195 0.1943087150533897 |
| Glomus jugular tumor 3 5 -1.2978478245883691 0.1943396319855721 |
| Scapular winging 16 36 1.2964805903563037 0.1948099628338289 |
| Hamartoma of tongue 4 7 -1.2961312528805076 0.1949302693231014 |
| Joint dislocation 66 144 1.2958477382969875 0.1950279474668399 |
| Abnormal csf metabolite level 40 86 1.2937880440205012 0.1957386435741885 |
| Eeg with focal sharp waves 2 4 1.2922215979437184 0.196280414176873 |
| Food intolerance 1 3 1.2913509219455015 0.1965820205349788 |
| Telangiectasia 30 71 -1.290706827544838 0.1968053562708767 |
| Muscular dystrophy 19 38 1.2902795442999555 0.1969536165617649 |
| Skeletal myopathy 4 7 1.289931244414006 0.197074531406626 |
| Macrocephaly at birth 0 2 1.2896993622472464 0.1971550611203765 |
| Early onset absence seizures 2 4 1.2884514099611295 0.1975888727169998 |
| Abnormality of folate metabolism 1 2 -1.288436734710667 0.1975939782610423 |
| Bloodstream infectious agent 3 5 1.2859393380370776 0.1984642334030182 |
| Preauricular skin tag 13 24 1.2859210173312552 0.1984706278651402 |
| Hydranencephaly 2 5 -1.285842799791607 0.1984979297685223 |
| Abnormal respiratory motile cilium physiology 2 4 -1.2855433547601778 0.1986024767100294 |
| Type 1 muscle fiber atrophy 4 9 1.2853096103867885 0.198684113182169 |
| Weight loss 48 121 1.285060237002554 0.1987712352151149 |
| Macrodontia 11 37 -1.283620440121051 0.1992747942624011 |
| Breast hypoplasia 7 11 -1.2835072095555418 0.1993144353737113 |
| Urinary urgency 9 19 -1.2826582748831814 0.1996118241345308 |
| Substantia nigra gliosis 0 3 1.2821409872033922 0.1997931930942704 |
| Inability to walk 58 133 1.2808990303982666 0.2002291334370776 |
| Bimanual synkinesia 5 8 -1.280162734094395 0.2004879091248605 |
| Alopecia of scalp 5 9 1.2799634587017028 0.2005579875962446 |
| Contractures of the large joints 1 3 1.2793674837560194 0.2007676786817711 |
| Abnormal renal insterstitial morphology 9 18 1.2782633455718084 0.2011565873900938 |
| Aplasia hypoplasia of the lungs 20 52 1.2777732556256605 0.2013293869316244 |
| Episodic respiratory distress 2 6 -1.277459419946919 0.2014400982888942 |
| Thick upper lip vermilion 9 11 1.276517170044033 0.2017727611829249 |
| Abnormal renal vascular morphology 6 11 -1.276061465153413 0.2019337921795387 |
| Death in adulthood 10 20 1.2760612724544835 0.2019338602927614 |
| Cerebral inclusion bodies 7 19 1.2755803528500251 0.202103902960804 |
| Glomerular sclerosis 23 50 1.27553963408931 0.20211830501626 |
| Proximal symphalangism 2 3 1.2737639430037362 0.2027470873267394 |
| Areflexia 31 141 1.2737186110247738 0.2027631582711699 |
| Decreased adipose tissue 13 20 1.2730085691650233 0.2030150010929481 |
| Fatigue 60 135 1.2729201161311352 0.2030463902105403 |
| Widely spaced teeth 24 46 1.271894810594229 0.2034104959177864 |
| Overweight 4 12 -1.271813165665285 0.2034395100222981 |
| Contractures involving the joints of the feet 16 30 1.270250331121498 0.2039954744559766 |
| Hypoketotic hypoglycemia 4 9 1.2697437146399608 0.2041759358200696 |
| Neonatal hypotonia 27 88 1.2692562678867765 0.2043496783690115 |
| Exaggerated cupid s bow 5 8 1.2691954610290643 0.2043713595375365 |
| Renal insufficiency 47 132 1.268104724143737 0.2047605547064037 |
| Synostosis involving bones of the upper limbs 21 45 1.2680841415353796 0.2047679041408692 |
| Premature ovarian insufficiency 14 31 1.2675042566535537 0.2049750425461676 |
| Homocystinuria 5 8 -1.2673222794579655 0.2050400773020211 |
| Reduced pancreatic beta cells 1 2 1.2663519633946008 0.2053871007606975 |
| Panhypogammaglobulinemia 4 6 1.2663242348820647 0.205397023844835 |
| Lower limb hypertonia 8 17 1.2659501980712478 0.2055309128507461 |
| Femoral hernia 4 6 -1.2658241068751723 0.2055760623382974 |
| Abnormality of the hypothenar eminence 3 4 1.2648438078743358 0.2059273239532579 |
| Muscle fibrillation 10 22 1.2637244348852952 0.2063289516311763 |
| Rheumatoid arthritis 2 3 -1.26250041004905 0.2067687788399932 |
| Ankle weakness 1 2 -1.2609203227661785 0.2073375553336305 |
| Pneumonia 26 89 -1.2601436363874965 0.2076175512067599 |
| Abnormality of pancreas physiology 30 65 1.2600364320596116 0.2076562199583085 |
| Falls 8 17 -1.2597737051853106 0.2077510079991535 |
| Emg abnormality 36 122 1.259157289141997 0.2079735251359411 |
| Abnormal pancreas size 5 10 1.2589440248283206 0.2080505506467149 |
| High frequency sensorineural hearing impairment 2 5 1.258737444934437 0.2081251816402147 |
| Polydactyly 36 93 -1.2585771596959845 0.2081831011632997 |
| Female pseudohermaphroditism 2 3 -1.2578633514925035 0.2084411796776 |
| Abnormal number of teeth 46 126 1.2558853950031732 0.2091575245106518 |
| Neoplasm of the heart 2 4 -1.2556201437489365 0.2092537244422025 |
| Abnormal brainstem morphology 58 137 1.25533121935013 0.2093585464883685 |
| Abnormality of the parathyroid gland 10 34 1.2551216734922388 0.2094345937142137 |
| Abnormal motor nerve conduction velocity 7 32 1.254582701667296 0.2096302862915084 |
| Visual fixation instability 3 7 -1.2532786136947631 0.2101043287272579 |
| Potter facies 1 3 -1.2522568560977645 0.2104762844160488 |
| Perseveration 4 12 1.252226093373908 0.2104874905128166 |
| Abnormal glomerular mesangium morphology 12 27 1.2521361928796977 0.2105202415057023 |
| Congenital muscular dystrophy 2 5 -1.2510239532620326 0.2109257384232865 |
| Sparse eyebrow 12 58 -1.250984727639282 0.2109400494865414 |
| Abnormal synaptic transmission at the neuromuscular junction 16 44 1.2506161043895605 0.2110745721826621 |
| Abnormality of the tongue 59 144 1.2505349921729512 0.2111041810128107 |
| Secondary microcephaly 51 119 1.2500065540474388 0.2112971531619771 |
| Abnormal oral physiology 36 94 1.2498282258940157 0.2113623028372204 |
| Mitral stenosis 4 9 -1.249380677526099 0.211525872279858 |
| Redundant skin 15 38 1.2493306008548395 0.2115441799324515 |
| Pseudoepiphyses of hand bones 3 6 1.249271160682849 0.211565912296842 |
| Aggressive behavior 37 121 1.2492148322208547 0.2115865084550652 |
| Long palm 2 3 1.248438173132829 0.211870636882284 |
| Narrow iliac wing 2 5 1.2481578945148255 0.2119732400525231 |
| Aspiration pneumonia 22 35 1.2481477846099789 0.2119769417130614 |
| Abnormal preputium morphology 10 17 -1.247900750147979 0.2120674059148362 |
| Abnormal arachnoid mater morphology 9 18 -1.246482374882894 0.2125873558940445 |
| Gastritis 3 7 1.2463948308511494 0.212619478047757 |
| Hypotelorism 23 53 1.2463716312093174 0.2126279911797219 |
| Absent eyebrow 3 8 1.2451267626581697 0.2130851580074797 |
| Ulcerative colitis 2 4 -1.2448296077018426 0.2131943903339894 |
| Obsessive compulsive behavior 30 59 1.24447723012479 0.2133239745318478 |
| Psychomotor retardation 18 59 1.244340872194583 0.2133741343852011 |
| Neurodegeneration 22 43 1.2441128775022832 0.2134580222311797 |
| Abnormal astrocyte morphology 7 27 1.243773595496559 0.2135829009352834 |
| Reduced antigen specific t cell proliferation 2 3 1.2428148051955004 0.2139360855191547 |
| Abnormal t cell proliferation 2 3 1.2428148051955004 0.2139360855191547 |
| Abnormal serum insulin like growth factor 1 level 5 8 -1.2419760141628997 0.2142454119390886 |
| Complex febrile seizure 1 3 -1.241460134521277 0.214435816342813 |
| Vitritis 1 4 1.2399332225481812 0.2150000944525218 |
| Micromelia 15 36 1.2397521212232414 0.2150670922940922 |
| Distal arthrogryposis 2 6 1.2397372518772736 0.2150725938281867 |
| Absence of subcutaneous fat 5 8 1.2392494815925188 0.2152531210024988 |
| Abnormal factor ix activity 2 3 -1.238766930207281 0.2154318240361803 |
| Loss of speech 16 27 1.238502305902049 0.2155298675985972 |
| Short upper lip 3 7 1.2380230196292583 0.2157075254481699 |
| Aplasia hypoplasia involving the vertebral column 8 23 1.2377354838975252 0.2158141574066601 |
| Esophageal stricture 3 5 1.237646572617889 0.2158471376310635 |
| Renal tubular dysfunction 30 59 1.2372375999421663 0.2159988862818536 |
| Irregular capital femoral epiphysis 1 2 1.237106104354981 0.216047693823624 |
| Inguinal hernia 54 125 1.2362632060591927 0.2163607430653493 |
| Pectus excavatum 55 125 1.2357822164875163 0.2165395270290808 |
| Myelopathy 6 8 -1.2357225531276854 0.2165617113275608 |
| Sensory neuropathy 17 58 1.2352705822682868 0.2167298182928314 |
| Abnormal anterior chamber morphology 4 10 -1.2344904073325034 0.2170202190567822 |
| Decreased specific pneumococcal antibody level 1 2 -1.2344436422636391 0.217037635081831 |
| Ectopia pupillae 4 9 -1.2341977277049725 0.2171292339600505 |
| Hypoplastic facial bones 12 22 1.2331450971271445 0.2175216347405979 |
| Vertical supranuclear gaze palsy 8 15 1.2328738734297533 0.217622824381154 |
| Limited elbow movement 28 53 1.2324059373631329 0.2177974841250538 |
| Sparse hair 52 131 1.2321503152523443 0.2178929390535033 |
| Hypoglycemic coma 5 11 1.2314814296698102 0.2181428579629609 |
| Biliary tract neoplasm 2 5 1.230224582432847 0.2186130168952464 |
| Neoplasm of the gallbladder 2 5 1.230224582432847 0.2186130168952464 |
| Enlarged joints 3 4 -1.2300149539540866 0.2186915050831901 |
| Variable expressivity 49 123 1.22756244837131 0.2196112656722506 |
| Left ventricular noncompaction cardiomyopathy 3 4 -1.22688803631543 0.2198646757512632 |
| Slowly progressive 29 88 1.2267927840249866 0.2199004836681806 |
| Self injurious behavior 19 79 -1.2263032021955274 0.2200845967750813 |
| Hypoplasia of the fovea 4 5 -1.2258361612338058 0.2202603361698232 |
| Prominent superficial blood vessels 9 15 1.2250466266242663 0.2205576532042421 |
| Neoplasm of the tongue 8 16 -1.224707480530833 0.22068545463283 |
| Nausea 11 32 1.2238581620147833 0.2210057388342916 |
| Pulmonary insufficiency 3 9 -1.2227395564035386 0.2214280814298344 |
| Osteochondroma 0 2 1.2200536250279592 0.2224445470463316 |
| Pancytopenia 26 56 1.2198827513904031 0.222509325418156 |
| Prolonged partial thromboplastin time 4 11 -1.2188031565550816 0.2229189131609856 |
| Hypoplasia of the brainstem 21 42 1.2179556893758223 0.2232408117531146 |
| Toe walking 11 34 1.2177123113229862 0.223333316950391 |
| Interrupted aortic arch 4 7 -1.217235908920897 0.2235144713903962 |
| Broad face 6 9 -1.2167665950340754 0.2236930331334687 |
| Cutaneous syndactyly of toes 3 7 -1.2152205214212295 0.2242819955491639 |
| Patchy hypopigmentation of hair 3 5 1.214315657372424 0.2246272088944971 |
| Abnormal scrotal rugation 1 2 1.2139402312561125 0.2247705485473301 |
| Sparse eyelashes 10 30 1.2136757243597676 0.2248715778973957 |
| Abnormality of the larynx 31 81 1.212966328223769 0.2251426944457895 |
| Abnormal leukocyte physiology 33 104 1.212813661325134 0.2252010710964826 |
| Abnormal vitamin b12 level 7 14 -1.2123602686254649 0.2253745027708618 |
| Pili canaliculi 1 2 -1.211886583152662 0.2255557986873322 |
| Abnormality of peripheral nerves 16 72 1.211379549487643 0.2257499734729984 |
| Peters anomaly 2 7 -1.210626123298183 0.2260387276651085 |
| Abnormal social behavior 46 105 1.2097281610595558 0.2263832201660018 |
| Bone cyst 4 7 -1.2095986414026914 0.2264329397318973 |
| Abnormality of hair pigmentation 14 36 1.2095041350239462 0.2264692234353342 |
| Progressive microcephaly 28 62 1.209152442319768 0.2266042847677778 |
| Limb muscle weakness 44 133 1.208769458008554 0.2267514284274328 |
| Decreased muscle mass 12 25 1.2078646536242112 0.227099327487283 |
| Emg chronic denervation signs 11 19 1.2064345141462152 0.2276499948244015 |
| Dermatological manifestations of systemic disorders 50 115 1.2060016794781396 0.2278168428594762 |
| Action tremor 32 86 1.205544305458698 0.2279932449291031 |
| Hypercalcemia 15 29 1.204889891230528 0.2282458115491601 |
| Recurrent tonsillitis 1 2 1.2048833894558668 0.2282483218633078 |
| Juvenile aseptic necrosis 6 12 -1.2037788355568806 0.2286750720405865 |
| Biventricular hypertrophy 1 3 1.203193076933683 0.2289016133317476 |
| Bilateral external ear deformity 2 4 1.202941248004243 0.2289990568933839 |
| Melanoma 15 40 -1.202718470934346 0.2290852836385024 |
| Focal myoclonic seizure 5 11 1.202387611355512 0.229213386787795 |
| Childhood onset sensorineural hearing impairment 2 5 -1.2020465590019191 0.2293454897565294 |
| Diabetes insipidus 10 18 1.2017469144318438 0.2294615985669148 |
| Slow pupillary light response 2 5 1.2016415660621504 0.2295024297789178 |
| Abnormal pupillary light reflex 2 5 1.2016415660621504 0.2295024297789178 |
| Limited knee extension 3 5 -1.2015610142152335 0.2295336537734709 |
| Distal muscle weakness 29 102 1.2014691562004556 0.2295692640215847 |
| Colon cancer 7 24 1.2014454480885453 0.2295784554934887 |
| Abnormal superior cerebellar peduncle morphology 1 3 1.201277535045656 0.2296435617190066 |
| Advanced eruption of teeth 8 16 1.200723045908868 0.2298586513909011 |
| Abnormal circulating serine family amino acid concentration 11 15 1.2003718595616475 0.2299949527817317 |
| Nephritis 13 33 1.200201533115986 0.2300610800660787 |
| Hyperchloremic acidosis 0 3 1.1972609770993543 0.2312048493280931 |
| Hand tremor 10 15 1.1971663141425235 0.2312417367694765 |
| Impaired vibration sensation in the lower limbs 11 27 -1.196699203971284 0.2314238174300755 |
| Loss of voice 4 6 -1.1950355327671551 0.2320731476000213 |
| Neoplasm of head and neck 5 15 1.1941629279485428 0.2324142414922372 |
| Short stepped shuffling gait 2 6 -1.1938901068829624 0.2325209579222162 |
| Ectopic calcification 39 90 1.1930597195695716 0.2328459853948326 |
| Abnormality of mouth shape 47 108 1.1929822536858627 0.2328763232639927 |
| Absence of secondary sex characteristics 3 6 1.192932106083249 0.2328959640031955 |
| Bladder diverticulum 5 10 1.1928612969354777 0.2329236990148959 |
| Lower limb asymmetry 10 16 -1.192344893972975 0.2331260381095112 |
| Enlargement of the wrists 0 2 1.1912544707434285 0.2335537015835078 |
| Abnormal echocardiogram 3 9 -1.1911814375045633 0.2335823650453397 |
| Abnormal ossification involving the femoral head and neck 1 5 1.1908986600237337 0.233693370656542 |
| Stuttering 6 9 -1.1908431261769865 0.2337151751177528 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 1 5 1.1906255497318323 0.2338006168609112 |
| Abnormality of taste sensation 2 3 1.1876247903063233 0.2349812665443782 |
| Benign neoplasm of the central nervous system 15 43 -1.185999717867547 0.2356224109418132 |
| Skin nodule 12 35 1.185380695803193 0.2358669607341332 |
| Radial bowing 2 5 1.185168426009301 0.2359508610043388 |
| Hyporeflexia of upper limbs 1 3 1.184834786065328 0.2360827758552415 |
| Lipoatrophy 14 33 1.184580250193269 0.2361834495431654 |
| Intestinal malrotation 13 51 -1.1840432588742935 0.2363959392215391 |
| Fibrous tissue neoplasm 11 33 1.1835071855658823 0.2366082004413157 |
| Submucous cleft soft palate 2 4 1.1834046528030953 0.2366488142074163 |
| Syringomyelia 9 12 -1.1833190451104867 0.2366827276394376 |
| Abnormality of dermal melanosomes 1 3 -1.1827127378347515 0.2369230142128633 |
| Myelofibrosis 1 4 1.1824057904704732 0.2370447267149353 |
| Small placenta 2 4 1.1823985053300128 0.237047615996703 |
| Peripheral axonal degeneration 38 114 1.1821484701289735 0.2371467948739465 |
| Reduced delayed hypersensitivity 1 3 -1.1817943165575246 0.2372873234840682 |
| Abnormal delayed hypersensitivity skin test 1 3 -1.1817943165575246 0.2372873234840682 |
| Widely spaced incisors 2 5 1.1816212321435788 0.2373560250115622 |
| Glomerulonephritis 13 27 1.1814354754581775 0.2374297721133644 |
| Inspiratory stridor 0 2 1.1800721024872325 0.2379715390792736 |
| Abnormal peripheral nervous system physiology 19 81 1.1785067283319444 0.238594651576486 |
| Disproportionate short trunk short stature 7 12 -1.1771363221248654 0.2391410997017735 |
| Type ii transferrin isoform profile 7 9 -1.1752316484980143 0.2399020516934664 |
| Abnormality of neutrophil physiology 3 6 1.17509094401482 0.2399583333372281 |
| Impaired pain sensation 17 27 1.1748625531577976 0.2400497092506797 |
| Keratoconjunctivitis 7 12 1.1748368133178084 0.2400600089298268 |
| Low set posteriorly rotated ears 52 119 1.174609835270888 0.2401508466397626 |
| Ankle flexion contracture 10 19 1.1740487944866922 0.240375481801873 |
| Hyperconvex nail 7 10 1.1732047024341017 0.2407137267534809 |
| Adult onset 42 108 1.173003589769714 0.2407943661442668 |
| Wide nose 27 57 1.1724280520441273 0.241025242482062 |
| Ascending aortic dissection 3 4 -1.1719077714643071 0.2412340865918629 |
| Descending aortic dissection 3 4 -1.1719077714643071 0.2412340865918629 |
| Patchy changes of bone mineral density 2 5 1.1716357325105085 0.2413433355609509 |
| Osteoarthritis 9 14 1.1710693116985942 0.2415709180069445 |
| Urticaria 8 16 1.170284360858061 0.2418865533664429 |
| Abnormality of the auditory canal 17 31 1.1699500887488865 0.2420210550678194 |
| Pancreatic cysts 5 11 -1.1664351445496592 0.2434385561079266 |
| Renal hypoplasia 19 50 1.1662672124826965 0.2435064251941012 |
| Abnormal parietal bone morphology 7 10 -1.1648519487893914 0.2440789266380914 |
| Anencephaly 15 30 -1.1648364169727567 0.2440852147966339 |
| Abnormality of the ovary 42 104 1.1624831347302171 0.2450392714203728 |
| Autoamputation 5 7 1.1623825853567753 0.2450800938818096 |
| Psychomotor deterioration 8 11 1.1616893328463578 0.2453616802388125 |
| Ichthyosis 25 55 1.160908976399425 0.2456789180201286 |
| Hallux valgus 11 24 1.1599502306743932 0.2460690699090282 |
| Mandibular aplasia 3 9 -1.1598559652147789 0.2461074537241594 |
| Poor appetite 6 19 1.1592319870497922 0.2463616363256915 |
| Abnormal ovarian physiology 17 38 1.158356789316001 0.24671846518586 |
| High frequency hearing impairment 0 2 1.1581117522412538 0.2468184346579021 |
| Abnormal metatarsal morphology 21 51 -1.1579037258658034 0.2469033268873193 |
| Fragile skin 7 11 1.1574614530927971 0.2470838792775715 |
| Abnormality of the uterus 41 89 1.1572067442116762 0.2471879029809889 |
| Abnormal jejunum morphology 2 2 -1.1568337607794783 0.2473402856197593 |
| Hypoplastic nipples 6 17 1.1563784693495982 0.2475263843827693 |
| Aplasia hypoplasia affecting the anterior segment of the eye 19 52 -1.15528816553342 0.2479724406045882 |
| Abnormal mitochondrial shape 3 5 1.1538764617427957 0.2485508206274134 |
| Horizontal nystagmus 17 37 1.1534047180960108 0.248744305834792 |
| Abnormal macular morphology 22 52 -1.1522123455022906 0.2492338258199113 |
| Vascular dilatation 27 111 1.1518702405593786 0.2493743987766632 |
| Proximal muscle weakness 29 101 1.1515996622558615 0.2494856202515389 |
| Parakeratosis 2 7 1.1514770550127966 0.249536029489565 |
| Abnormal drinking behavior 3 7 -1.1507065755987174 0.2498529704172618 |
| Infantile muscular hypotonia 46 105 1.150606817021843 0.2498940272087655 |
| Sclerosis of hand bone 2 4 -1.149955810106553 0.2501620723403082 |
| Duplication of hand bones 32 96 1.14971068206655 0.2502630532097614 |
| Hypotension 10 37 1.1484448280130573 0.2507849767693759 |
| Short chin 8 24 -1.1481402627098292 0.2509106652272268 |
| Recurrent otitis media 11 45 -1.1478696431261315 0.2510223817981225 |
| Anotia 3 8 -1.1477112387553894 0.2510877900399009 |
| Hepatic failure 36 75 1.1469989053884917 0.2513820733188006 |
| X linked dominant inheritance 15 35 1.1468441943264824 0.2514460202403283 |
| Spontaneous recurrent epistaxis 1 3 1.1457852769201151 0.2518840085745983 |
| Clumsiness 18 29 1.1453724253457065 0.2520549158810268 |
| Epiphyseal dysplasia 1 8 1.145257932831374 0.2521023264255211 |
| Anal atresia 21 57 -1.1440546494321038 0.2526009736690695 |
| Emphysema 6 19 -1.1436747676401784 0.2527585414221318 |
| Acute kidney injury 3 8 1.143505631440315 0.2528287179351163 |
| Abnormality of skin adnexa physiology 31 65 1.142284861871936 0.253335631561324 |
| Abnormal brain positron emission tomography 6 12 -1.1420940270736557 0.2534149379277006 |
| Choreoathetosis 18 46 1.141875958560841 0.2535055831361796 |
| Focal sensory seizure 1 2 -1.140885008458828 0.2539177787953788 |
| Epileptic aura 1 2 -1.140885008458828 0.2539177787953788 |
| Ambiguous genitalia 13 41 -1.1405449189182535 0.2540593499247974 |
| Abnormal tongue morphology 46 110 1.1391511417929334 0.2546401198047365 |
| Thin eyebrow 6 25 -1.13902496613581 0.2546927412052282 |
| Abnormal cranial nerve morphology 38 107 1.1381419487430862 0.2550612141945403 |
| Incomprehensible speech 1 3 -1.1380165008928278 0.2551135921928198 |
| Prominent supraorbital ridges 7 16 1.1373807236015487 0.2553791620488315 |
| Hemihypertrophy 3 4 -1.1371982589818328 0.255455414628293 |
| Agnosia 6 15 -1.137023101635282 0.2555286283597215 |
| Anterior rib cupping 2 6 1.136461252049018 0.2557635733579984 |
| Poor suck 22 39 1.1353887174946191 0.2562124848494491 |
| Abnormal circulating cholesterol concentration 26 48 1.1350733254585117 0.2563445968876152 |
| Deeply set eye 44 112 1.13426292918367 0.2566842742156758 |
| Abnormal adipose tissue morphology 28 95 1.133167570200114 0.2571438900304801 |
| Chronic mucocutaneous candidiasis 5 9 1.1328428946726352 0.2572802344971789 |
| Long hallux 2 6 -1.1322882405197012 0.2575132723829374 |
| Hypergonadotropic hypogonadism 10 21 1.1322774722063016 0.257517798137381 |
| Type ii diabetes mellitus 26 59 1.1315441293837545 0.2578261405558177 |
| Hyposmia 10 23 1.1309796967926893 0.2580636370485687 |
| Hypertensive crisis 2 7 1.1306971593335262 0.2581825773874786 |
| Abnormality of t cell physiology 7 21 1.1299557477840023 0.2584948715513351 |
| Visual hallucinations 3 8 1.1299361450382477 0.2585031320864754 |
| Wide nasal ridge 3 6 1.1275142847666797 0.2595251043592639 |
| Limb hypertonia 18 62 1.1271467325064108 0.2596804475999064 |
| Aplasia hypoplasia of the abdominal wall musculature 6 12 -1.1268203758890285 0.2598184337591323 |
| Amenorrhea 27 57 1.1256124291192389 0.2603296048161927 |
| Rimmed vacuoles 7 22 1.1252590239728002 0.2604792880046962 |
| Focal segmental glomerulosclerosis 15 33 1.125189661321255 0.2605086732385189 |
| Large iliac wing 2 3 -1.1244060242798777 0.2608408175395946 |
| Odontogenic neoplasm 2 4 -1.122255100733419 0.2617539906848147 |
| Decreased methylmalonyl coa mutase activity 3 4 -1.122010260964119 0.2618580771307739 |
| Shoulder girdle muscle atrophy 1 6 1.121793223958067 0.2619503679584822 |
| Orthopnea 2 4 -1.1215359128256446 0.2620598137017011 |
| Aplasia hypoplasia of the uvula 6 13 -1.1211497706343467 0.2622241162339833 |
| Sensory axonal neuropathy 7 23 1.1205205445738189 0.2624920027692954 |
| Abnormal size of pituitary gland 8 12 -1.1203868685272111 0.2625489383066117 |
| Edema of the dorsum of hands 2 4 -1.1201913040125535 0.2626322488533441 |
| Edema of the dorsum of feet 2 4 -1.1201913040125535 0.2626322488533441 |
| Hypoparathyroidism 7 20 1.1188782731467108 0.2631920731486077 |
| Abnormality of fontanelles 27 78 1.1178618164320102 0.2636260151679046 |
| Abnormality of the maxilla 24 51 1.1175005607033757 0.2637803599780095 |
| Eeg with focal spikes 2 7 1.1145951684085265 0.2650239417456927 |
| Autoimmune hemolytic anemia 6 12 1.114205827698868 0.2651908958974642 |
| Hand polydactyly 25 65 -1.1141515020907375 0.2652141971547321 |
| Recurrent corneal erosions 0 2 1.113954026547267 0.2652989099463627 |
| Proximal renal tubular acidosis 1 4 1.1138536884834842 0.2653419599737854 |
| Myeloproliferative disorder 0 3 1.1132338969060696 0.2656079880939594 |
| Choroidal neovascularization 3 4 -1.1118124491900516 0.2662187980734749 |
| Handgrip myotonia 1 2 -1.111788420655492 0.2662291316722966 |
| Transient neutropenia 3 6 1.1106812554857783 0.2667055733665417 |
| Abnormal circulating glycine concentration 10 13 1.1101281933427618 0.2669437898117142 |
| Chondrosarcoma 2 4 1.1099417493175578 0.2670241284669183 |
| Sinus tachycardia 6 14 1.109683122233306 0.2671355983025343 |
| Decreased cervical spine mobility 2 2 -1.1091208648910702 0.2673780450063532 |
| Abnormality of the tongue muscle 2 2 -1.1091208648910702 0.2673780450063532 |
| Abnormality of the pulmonary artery 16 64 -1.1090476667647733 0.2674096193384991 |
| Melena 3 7 -1.1089376004309035 0.2674571017584388 |
| Abnormal mitochondrial morphology 5 16 1.1088706572384956 0.2674859837666834 |
| Mitochondrial myopathy 17 42 1.1082984959735331 0.2677329248186479 |
| Stage 5 chronic kidney disease 18 46 1.1082349342930065 0.2677603672902779 |
| Neoplasm of the endocrine system 19 65 1.1072277115774736 0.26819548924639 |
| Phalangeal dislocation 2 2 -1.105940529978179 0.2687522606532679 |
| Diffuse optic disc pallor 2 2 -1.105940529978179 0.2687522606532679 |
| Peripheral axonal neuropathy 36 89 1.1053931455787522 0.2689892725575351 |
| Bulbar signs 9 17 1.105163496656996 0.2690887509321387 |
| Polycystic liver disease 2 5 1.10497657373166 0.2691697400764019 |
| Bulbar palsy 6 18 1.1045137405393488 0.2693703464066501 |
| Abnormal electroretinogram 24 53 1.1042555737186943 0.269482288518609 |
| Type 2 muscle fiber predominance 3 4 -1.1033238671387375 0.2698865454798855 |
| Shortened qt interval 2 3 -1.1021957129238416 0.2703765953783916 |
| Sunken cheeks 0 3 1.102059445167454 0.2704358289100352 |
| Abnormality of salivation 20 74 1.1019149704361129 0.2704986396053863 |
| Neoplasm of the middle ear 3 3 -1.1007705074574947 0.2709965507000529 |
| Sacrococcygeal teratoma 3 3 -1.1007705074574947 0.2709965507000529 |
| Bilateral camptodactyly 3 3 -1.1007705074574947 0.2709965507000529 |
| Leber optic atrophy 2 4 -1.100455786669053 0.2711335834377175 |
| Recurrent aspiration pneumonia 4 9 1.099949371415149 0.2713541816018785 |
| Abnormality of the amniotic fluid 39 162 -1.0987787428433506 0.2718645863928035 |
| Subacute progressive viral hepatitis 2 6 1.0985317825300691 0.2719723472625821 |
| Viral hepatitis 2 6 1.0985317825300691 0.2719723472625821 |
| Aplasia hypoplasia of the phalanges of the toes 5 8 -1.0979347343948709 0.2722329893735613 |
| Hypolipidemia 2 4 -1.0975320887788165 0.2724088613172846 |
| Hypotriglyceridemia 2 4 -1.0975320887788165 0.2724088613172846 |
| Glycosuria 4 14 1.0974516677303483 0.272443997813721 |
| Inflammatory abnormality of the eye 18 60 1.0970686166626848 0.2726113979638702 |
| Abnormal thoracic spine morphology 16 41 1.09702329101147 0.2726312107374338 |
| Coarctation of aorta 24 59 1.0967038605991066 0.2727708682720728 |
| Cranial nerve compression 7 16 1.0966964179964336 0.2727741228209066 |
| Abnormal middle phalanx morphology of the hand 7 16 -1.096630316970181 0.2728030290655412 |
| Corticospinal tract hypoplasia 1 3 1.0949988122736145 0.2735171568272627 |
| Female infertility 3 7 -1.0949040373625172 0.273558680100022 |
| Abnormality of the shoulder girdle musculature 22 52 1.0949014788003275 0.273559801130216 |
| Abnormality of the adrenal glands 43 90 1.0948668176595524 0.2735749881666138 |
| Prominent umbilicus 2 4 -1.0944113373755748 0.2737746137892314 |
| Seborrheic dermatitis 5 11 1.0928953656250948 0.2744397432977108 |
| Buphthalmos 6 8 -1.0921601239564849 0.2747627262237118 |
| Abnormality of urine calcium concentration 10 18 1.092158771916994 0.2747633203975792 |
| Macroscopic hematuria 1 3 1.0921233957916994 0.2747788672739155 |
| Hoarse voice 18 40 1.091995804628645 0.2748349452232759 |
| Scarring alopecia of scalp 2 4 1.0898958277489543 0.275759034705648 |
| Large sella turcica 2 3 -1.0889974682686152 0.2761550021333492 |
| Cleft lip 31 85 1.088855193722759 0.2762177476409113 |
| Abnormal carotid artery morphology 12 31 -1.0872730241796114 0.2769161666531072 |
| Abnormality of the autonomic nervous system 30 94 1.0872285161517847 0.2769358312735051 |
| Abnormal circulating aromatic amino acid concentration 3 6 1.0871700652411729 0.2769616576100004 |
| Central nervous system cyst 28 89 1.087135174852626 0.2769770745920015 |
| Omphalocele 9 24 -1.086959667907693 0.2770546345441811 |
| Impaired social interactions 30 74 1.0862349981998662 0.2773750369566907 |
| Resting tremor 12 29 1.085469489473094 0.2777137697984007 |
| Limb dysmetria 2 5 -1.0852702894855613 0.2778019607203279 |
| Decreased ldl cholesterol concentration 3 7 -1.085070078524495 0.2778906184391505 |
| Bifid uvula 24 59 1.0848959914651608 0.2779677235887532 |
| Optic disc pallor 37 75 1.0842435837059217 0.2782568120115247 |
| Weakness of facial musculature 33 100 1.0826736217241693 0.2789533163874385 |
| Muscle stiffness 15 37 -1.0816701691209711 0.2793991128939805 |
| Dyscalculia 4 16 1.0804625987062286 0.2799362331944848 |
| Osteomyelitis 11 21 1.0799563069168767 0.2801616374722662 |
| Birth length less than 3rd percentile 6 10 -1.0795674712566663 0.2803348332411697 |
| Long tract signs 2 2 -1.079443147135575 0.2803902252216335 |
| Cerebral amyloid angiopathy 2 2 -1.079443147135575 0.2803902252216335 |
| Generalized hypertrichosis 0 2 1.078329101035583 0.2808869145930524 |
| Epispadias 4 11 -1.0779262898136888 0.2810666520124676 |
| Osteochondrosis 1 2 -1.0778088475352807 0.2811190703438107 |
| Incomplete partition of the cochlea type ii 1 2 -1.0778088475352807 0.2811190703438107 |
| Vertical nystagmus 1 4 -1.0775674149944112 0.2812268504280197 |
| Severe intrauterine growth retardation 2 4 1.0772576280678323 0.2813651862891688 |
| Abnormal dentate nucleus morphology 2 3 -1.0770429966360484 0.2814610573848912 |
| Ethylmalonic aciduria 3 8 1.0762508537091475 0.2818150819095979 |
| Bifid nasal tip 1 4 1.0759917243042318 0.2819309575676989 |
| Fatigable weakness of distal limb muscles 1 2 -1.0757591799995616 0.2820349725987499 |
| Polycystic kidney dysplasia 10 25 1.074760436235937 0.2824819978480954 |
| Premature birth 29 70 1.073122600007112 0.2832161121560042 |
| Small cerebral cortex 2 4 -1.0731037883923875 0.2832245514374407 |
| Periorbital edema 18 40 1.0728295011897455 0.2833476217304065 |
| Peripheral hypermyelination 2 3 1.0715781476477102 0.2839095528136264 |
| Ureteropelvic junction obstruction 4 8 -1.0710056509402743 0.2841668887731825 |
| Mottled pigmentation 2 4 1.070593035339647 0.2843524564114228 |
| Abnormally shaped carpal bones 1 3 -1.0704664546973324 0.284409400579118 |
| Impairment of activities of daily living 34 95 1.0692083470490348 0.2849757983627645 |
| Abnormal ilium morphology 18 39 -1.0685744072455787 0.2852614857794235 |
| Narrow nasal ridge 5 10 1.0681369878455325 0.2854587233926855 |
| Abnormal protein o linked glycosylation 2 4 1.0673494828240868 0.2858140511379963 |
| Abnormal aldolase level 5 8 -1.0665068167261804 0.2861945988661154 |
| Abnormal sex determination 1 3 1.0659427102366017 0.2864495403569247 |
| Subglottic stenosis 4 7 -1.0651414904307108 0.2868119060815886 |
| Pseudoepiphyses 3 7 1.0648677269752946 0.2869357913238697 |
| Metaphyseal spurs 2 3 -1.0647788884522482 0.2869760008800415 |
| Broad finger 18 65 -1.0642761902089075 0.2872036007848484 |
| Xanthomatosis 3 6 -1.0641747091508345 0.2872495617707771 |
| Primary adrenal insufficiency 13 29 -1.0640232698429075 0.2873181581844606 |
| Jaundice 37 90 1.0636471639338945 0.2874885680894232 |
| Aplasia of the phalanges of the toes 0 2 1.0634051275221 0.2875982684762117 |
| Arnold chiari type i malformation 4 12 -1.0633574415220015 0.28761988497001 |
| Airway obstruction 10 24 1.0631916672228643 0.2876950404833491 |
| Abnormal sweat gland morphology 1 4 1.0630529661042616 0.2877579322657402 |
| Abnormal fingernail morphology 36 78 1.0629396032099392 0.2878093417268608 |
| Calvarial skull defect 4 12 1.062202458284418 0.2881437840935872 |
| Myocardial fibrosis 3 4 1.0617792006710518 0.2883359343009313 |
| Hyperhidrosis 22 47 1.061388748884456 0.2885132679313991 |
| Capillary malformation 10 20 1.0595100068761567 0.2893675743312556 |
| Sparse and thin eyebrow 5 18 -1.05870224829686 0.2897354036349107 |
| Focal t2 hyperintense basal ganglia lesion 10 32 1.0578164135572865 0.2901391482973774 |
| Periorbital fullness 16 30 1.0572489737521409 0.2903979741943936 |
| Morphological abnormality of the pyramidal tract 13 33 1.0570237676880838 0.2905007403237525 |
| Fair hair 2 5 1.0562909861202048 0.2908352928525219 |
| Abnormal muscle fiber type distribution 8 19 1.0562793733830815 0.290840596750302 |
| Gastrointestinal hemorrhage 19 53 1.0558913055596637 0.2910178767945099 |
| Exanthem 4 4 -1.0555984062737438 0.291151729350168 |
| Limited wrist movement 2 8 1.0548993579786825 0.2914713559310167 |
| Hypoplastic pelvis 4 5 -1.0535223758023335 0.2921016446099949 |
| Hemianopia 9 17 -1.0518317007076874 0.2928767719916234 |
| Tarsal synostosis 2 6 1.0513184801406974 0.2931123422653146 |
| Pleural effusion 6 21 -1.050804912259981 0.2933481992246527 |
| Metaphyseal irregularity 7 17 1.050753086005994 0.2933720075958415 |
| Hepatic necrosis 7 11 1.048536924246123 0.2943912994365261 |
| Decreased corneal reflex 3 4 1.0480789225426743 0.2946022464119364 |
| Tall chin 5 5 -1.0477343975003564 0.2947609949205825 |
| Sleep wake cycle disturbance 3 7 1.047566845021578 0.2948382196197827 |
| Juvenile cataract 5 9 1.046821644083283 0.2951818458939599 |
| Type i diabetes mellitus 8 15 1.0461168943629615 0.295507066069695 |
| Basal ganglia gliosis 6 11 1.0456289197414244 0.2957323917849781 |
| Abnormality of the menstrual cycle 38 85 1.0456206350611208 0.2957362182871794 |
| Hyperlordosis 37 79 1.0445013578446054 0.2962534913083972 |
| Honeycomb lung 2 5 -1.0440681655997048 0.2964538531478839 |
| Crackles 2 5 -1.0440681655997048 0.2964538531478839 |
| Aplasia hypoplasia of the ulna 15 26 -1.044006873140765 0.2964822097049402 |
| Follicular thyroid carcinoma 4 7 -1.043990567156856 0.2964897538678139 |
| Sparse scalp hair 17 55 1.0425181870650175 0.2971714979137447 |
| Patellar aplasia 4 10 -1.0417636989929642 0.2975212481348885 |
| Abnormal conjunctiva morphology 14 43 1.0415700105421346 0.2976110786450088 |
| Hemangiomatosis 5 7 -1.0415553396577384 0.2976178835734515 |
| Hypochromic microcytic anemia 4 7 -1.0414761348141903 0.2976546236654851 |
| Recurrent bacterial skin infections 3 6 -1.0410489323736658 0.2978528387678372 |
| Pes valgus 5 15 1.0408946702721196 0.2979244355846946 |
| Abnormal exteroceptive sensation 44 82 1.0406990375385758 0.298015250060216 |
| Extrapyramidal dyskinesia 2 3 1.0402932061536458 0.2982036996086346 |
| Transposition of the great arteries 4 12 -1.0402467380746383 0.2982252823383318 |
| Lower limb metaphyseal irregularity 2 5 1.04007207058842 0.298306418353174 |
| Glioblastoma multiforme 5 12 1.0392777462688796 0.2986755814460919 |
| 3 methylglutaconic aciduria 6 16 1.037926687826518 0.2993041876327835 |
| Ureteral duplication 4 14 -1.0377998511371724 0.2993632461584472 |
| Facial hemangioma 6 11 -1.0376354916526445 0.2994397878570765 |
| Abnormal phalangeal joint morphology of the hand 19 76 -1.0370890416395504 0.2996943617777314 |
| Abnormal ciliary body morphology 2 6 -1.036836929581587 0.2998118615263214 |
| Subcutaneous nodule 10 28 1.0368314172477455 0.2998144309566029 |
| Severe short stature 16 45 -1.0356530502621903 0.3003640330316945 |
| Abnormality of the dorsal column of the spinal cord 2 4 1.0326956622314234 0.3017463441611556 |
| Muscle abnormality related to mitochondrial dysfunction 22 54 1.0325224154925017 0.3018274524165565 |
| Exercise intolerance 19 51 1.0325178302273883 0.3018295992794797 |
| Myoclonic spasms 7 14 -1.032514570257152 0.3018311256334429 |
| Wide anterior fontanel 14 40 1.0321915887377813 0.3019823746074226 |
| Generalized aminoaciduria 2 6 1.0316170787725472 0.3022515364420177 |
| Abnormality of adrenal morphology 14 43 1.0312850437217658 0.3024071698884114 |
| Weakness of the intrinsic hand muscles 3 4 -1.0308177959118132 0.3026262713444232 |
| Small nail 31 76 1.0301872955303508 0.3029220923795552 |
| Plagiocephaly 16 58 -1.0297816939858615 0.3031124959507076 |
| Persistent ebv viremia 1 3 1.029506072018982 0.3032419279480622 |
| Writer s cramp 5 7 -1.028144676440223 0.3038817777344151 |
| Spondylolisthesis 1 3 -1.0267343396827335 0.3045455747946317 |
| Abnormality of the septum pellucidum 28 65 1.0248887695826907 0.3054156742207603 |
| Bilateral cleft lip and palate 2 4 -1.024695443252733 0.3055069138018955 |
| Hypernatriuria 1 2 -1.0244264633148104 0.3056338878691316 |
| Testicular adrenal rest tumor 1 2 -1.0244264633148104 0.3056338878691316 |
| Abnormal response to insulin tolerance test 1 2 -1.0244264633148104 0.3056338878691316 |
| Leydig cell neoplasia 1 2 -1.0244264633148104 0.3056338878691316 |
| Optic neuropathy 14 33 1.0243907709559796 0.3056507393538614 |
| Lower eyelid coloboma 3 5 1.0240497467777954 0.3058117786574392 |
| Abnormal saccadic eye movements 39 40 1.0239243055072529 0.3058710290033273 |
| Oral leukoplakia 3 7 1.023920565158044 0.3058727958193137 |
| Abnormal sacrum morphology 21 49 1.0237656685726084 0.305945969732992 |
| Aplastic clavicle 6 9 -1.0234536464553232 0.3060934057584674 |
| Kyphoscoliosis 26 92 1.0226487537109856 0.3064739493754032 |
| Abnormal esophagus morphology 25 70 1.022532373394576 0.3065289985205861 |
| Dental crowding 15 49 -1.021275353568513 0.3071239999917945 |
| Asymmetry of the thorax 2 2 -1.0212049018050684 0.3071573704564612 |
| Agenesis of central incisor 0 2 1.0211694735258534 0.3071741524644644 |
| Morphological abnormality of the corticospinal tract 10 25 1.0199930206196923 0.3077317708254043 |
| Pericardial effusion 6 13 -1.0172309599656797 0.3090435711414967 |
| Abnormal cerebral artery morphology 12 29 -1.0170991374184677 0.309106270609204 |
| Abnormal thyroid morphology 22 63 1.0166998027990997 0.3092962595932709 |
| Metamorphopsia 3 6 -1.0164804500801623 0.3094006525206558 |
| Tibial torsion 2 4 -1.0164496314449731 0.3094153213912749 |
| Abnormality of the hypothalamus pituitary axis 39 123 -1.01380681621397 0.3106749421936634 |
| Decreased circulating antibody level 23 71 1.0108365250515023 0.3120946783608067 |
| Neoplasm of the oral cavity 9 24 -1.0096513477986009 0.31266235948835 |
| Ectopia lentis 7 18 -1.0091290041921632 0.3129127695961646 |
| Abnormal insulin level 19 40 1.0088413855274587 0.3130507095685173 |
| Neoplasm of the larynx 2 6 1.006677827675204 0.314089620474322 |
| Abnormal rectum morphology 21 50 1.006509499454914 0.3141705443584892 |
| Generalized hypopigmentation 7 12 1.0062307535090231 0.3143045817779182 |
| Scaling skin 6 12 1.0061788938308822 0.3143295231049436 |
| Abnormal cochlea morphology 3 6 -1.0053740643638311 0.3147167635857673 |
| Thick eyebrow 33 71 1.0050592052320586 0.314868342101148 |
| Cellulitis 2 6 1.0045037518060955 0.3151358637522086 |
| Abnormality of hand joint mobility 5 10 -1.0044701694146074 0.315152042742211 |
| Hyperhomocystinemia 5 9 -1.0037907275670166 0.3154794946891723 |
| Polyuria 3 6 1.0035985330119728 0.3155721619612699 |
| Atrophy degeneration involving the corticospinal tracts 8 21 1.0026563214586004 0.316026711161125 |
| Recurrent fever 6 23 1.0019627982163513 0.3163615606601337 |
| Narrow forehead 19 77 -1.0015625418091765 0.3165549198958119 |
| Hypocalcemia 6 23 1.001184364004602 0.3167376844469727 |
| Calcific stippling 1 4 1.000426116099161 0.3171043365562436 |
| Pseudoepiphyses of the metacarpals 3 5 1.0000307335336154 0.3172956348606757 |
| Inferior vermis hypoplasia 1 3 -0.9999672751058416 0.3173263450547436 |
| Neuropathic arthropathy 2 4 0.9990139386024028 0.3177879391167382 |
| Abnormal lower motor neuron morphology 5 14 0.9985477443297208 0.318013824903701 |
| Anisocytosis 5 8 0.9985180130898929 0.3180282341921741 |
| Abnormal consumption behavior 12 43 -0.9971590181855454 0.3186873297049726 |
| Aortic aneurysm 20 85 0.997111353437908 0.3187104627343484 |
| Decreased fertility 20 49 -0.996675176761038 0.3189222024872138 |
| Parkinsonism 19 48 0.9962431250732254 0.319132030552026 |
| Abnormal atrioventricular conduction 7 28 -0.9949386342573592 0.3197661111744754 |
| Myokymia 3 5 -0.9941071322321924 0.3201707134296601 |
| Abnormality of pain sensation 24 40 0.9937813916684296 0.3203293074010758 |
| Adipose tissue loss 5 12 0.9934299444877128 0.3205004747911797 |
| Abnormality of the humerus 11 21 0.9929962719731408 0.3207117712536234 |
| Truncal ataxia 13 27 0.9916054718235688 0.3213900190100252 |
| Downturned corners of mouth 28 60 0.9901084560613947 0.322121110637807 |
| Abnormality of the nasal septum 3 8 0.9896405262966436 0.322349854095241 |
| Metabolic alkalosis 2 3 -0.9890371347282558 0.3226449732943126 |
| Myelomeningocele 3 7 -0.98885588011374 0.3227336594505248 |
| Broad nasal tip 39 85 0.9871826111448356 0.3235531247782177 |
| Abnormal cd4 cd8 ratio 2 7 0.9871169011774352 0.3235853331673799 |
| Slender finger 18 61 0.984661823899214 0.3247902107388922 |
| Tibial bowing 5 9 -0.9843942991783602 0.3249216799741399 |
| Abnormal endocardium morphology 10 22 0.9839340942809682 0.3251479187299884 |
| Abnormal iliac wing morphology 11 24 -0.9825443163339056 0.3258317616487407 |
| Nevus 22 50 0.9812904041542836 0.3264495534319873 |
| Abnormality on pulmonary function testing 11 39 -0.9809349160178532 0.3266248377795395 |
| Neuronal loss in the cerebral cortex 3 8 0.9797105759752686 0.3272290041083323 |
| Bladder neoplasm 11 19 -0.9794766731914252 0.3273445089430338 |
| Hip osteoarthritis 1 3 -0.978997641231852 0.3275811449816188 |
| Cholecystitis 7 12 0.9781055454940876 0.3280221254088051 |
| Loss of purkinje cells in the cerebellar vermis 0 2 0.97769754515569 0.3282239362713393 |
| Noncompaction cardiomyopathy 5 8 -0.9772254919484998 0.3284575303361507 |
| Aplasia hypoplasia of the bladder 3 4 -0.9770979787441346 0.3285206483393912 |
| Increased density of long bones 1 3 0.9764055745626968 0.3288635200968084 |
| Abnormal dentin morphology 3 7 0.9757940015606268 0.3291665579053702 |
| Spastic paraparesis 14 32 0.9753902124022014 0.3293667368168504 |
| Chronic constipation 12 40 -0.9753148595196012 0.3294041018208014 |
| Abnormality of the nasal bone 2 5 0.9749327917742362 0.329593598849774 |
| Periodontitis 6 14 0.9748807492018868 0.3296194162611652 |
| Abnormality of pulmonary circulation 24 57 -0.9736052356907028 0.3302525857050096 |
| Aplasia hypoplasia of the ribs 20 46 -0.9727833658526686 0.3306609816294741 |
| Aplasia hypoplasia of the 5th metacarpal 1 3 0.9724680653562554 0.3308177445175588 |
| Abnormality of the 5th metacarpal 1 3 0.9724680653562554 0.3308177445175588 |
| Abnormality of the inner ear 10 20 -0.9717583317438016 0.3311707897961633 |
| Progressive spastic paraparesis 2 3 -0.9715566313481409 0.3312711667786754 |
| Uterus didelphys 1 4 -0.9714508502646846 0.3313238170081076 |
| Aplasia hypoplasia involving forearm bones 20 42 -0.970458504308245 0.3318179990450931 |
| Focal motor seizure 10 35 -0.9700498829938816 0.3320216282856836 |
| Abnormality of the choanae 27 56 0.9699838792917798 0.3320545276424169 |
| Hemimegalencephaly 2 4 -0.9698210898959604 0.3321356785556615 |
| Head tremor 10 19 0.9686783971868224 0.3327056742990915 |
| Ear pain 4 7 -0.968647421107642 0.3327211345148479 |
| Hypothalamic hypothyroidism 4 7 -0.968647421107642 0.3327211345148479 |
| Intracranial meningioma 4 7 -0.968647421107642 0.3327211345148479 |
| Neuralgia 4 7 -0.968647421107642 0.3327211345148479 |
| Progressive pulmonary function impairment 4 7 -0.968647421107642 0.3327211345148479 |
| Brain stem compression 4 7 -0.968647421107642 0.3327211345148479 |
| Abnormal metabolic brain imaging by mrs 9 26 0.967715573753582 0.3331864380503642 |
| Abnormal c peptide level 2 6 0.9667373077474972 0.3336753716899292 |
| Delayed cns myelination 25 51 0.9648796245388942 0.3346051080336709 |
| Decreased proportion of cd8 positive t cells 3 3 -0.9641537222299216 0.3349688620588953 |
| Severe varicella zoster infection 2 4 0.962805013677798 0.3356453842035303 |
| Inappropriate crying 6 10 0.961425151368436 0.3363384430580893 |
| Rectal prolapse 6 13 0.9608698657749084 0.3366176041328399 |
| Intractable diarrhea 2 5 0.9608125473180718 0.3366464285664281 |
| Cirrhosis 26 62 0.9590446123956412 0.337536271200866 |
| Increased connective tissue 4 9 0.9576637671300255 0.3382323329429677 |
| Abnormal morphology of the abdominal musculature 9 20 -0.9567878127045992 0.3386743648653487 |
| Skin tags 13 30 0.956102484222774 0.3390204598444675 |
| Craniosynostosis 35 80 -0.9558928477812988 0.3391263728100924 |
| Melanocytic nevus 8 23 -0.9556650722808052 0.3392414740897966 |
| Abnormality of vitamin metabolism 17 39 0.9555708148859612 0.3392891122966095 |
| Beaded ribs 0 2 0.954783755432321 0.3396870639851206 |
| Abnormal renal tubule morphology 17 37 0.9545976327031868 0.3397812147874353 |
| Abnormal mitochondrial number 3 3 -0.954206141667501 0.3399793064336878 |
| Alopecia 29 71 0.9540457663608424 0.3400604765549146 |
| Abnormal bronchoalveolar lavage fluid morphology 1 3 0.9534797569266374 0.3403470479462904 |
| Flat cornea 4 8 0.9525233079032256 0.3408316510320512 |
| Parathyroid carcinoma 0 2 0.9522649418179652 0.3409626328968365 |
| Delayed ability to sit 12 23 0.9517198407505344 0.3412390843175656 |
| Absent tibia 2 2 -0.9514972324069934 0.3413520227883486 |
| Postural instability 9 29 0.9510797357708624 0.3415639007049631 |
| Acanthosis nigricans 6 16 0.9504937823788668 0.3418614116950988 |
| Neonatal breathing dysregulation 0 2 0.9502476100405014 0.341986452268284 |
| Anal stenosis 4 11 -0.9493808733283348 0.3424269346071735 |
| Shawl scrotum 4 10 -0.9491455416976424 0.3425465945658161 |
| Distal sensory impairment 35 69 0.9484668055471804 0.3428918638113343 |
| Chills 2 6 0.9479631617152896 0.3431482082885804 |
| Abnormal intraocular pressure 4 11 -0.947927578685539 0.3431663239578038 |
| Abnormality of the odontoid process 4 12 0.9478169092503528 0.3432226707576684 |
| Vacuolated lymphocytes 4 7 -0.9473464494125422 0.3434622690458271 |
| Abnormal sacroiliac joint morphology 2 2 -0.9472812758367832 0.3434954694143912 |
| Menorrhagia 3 6 -0.9468094589813156 0.3437358809230912 |
| Skeletal dysplasia 30 74 0.9466878387514992 0.3437978692111265 |
| Intussusception 2 3 -0.945093152514548 0.3446113208694288 |
| Abnormal optical coherence tomography 3 5 -0.9446704699601828 0.344827137531978 |
| Abnormal platelet aggregation 2 6 0.941260572097276 0.3465713426731065 |
| Abnormality of masticatory muscle 2 2 -0.940959566460931 0.3467255801628377 |
| Talipes valgus 3 6 0.9409396147279928 0.3467358051207418 |
| Primary microcephaly 11 24 0.940585643641756 0.3469172417997819 |
| Male infertility 4 12 -0.9403625021806784 0.3470316495508974 |
| Neoplasm of the male external genitalia 6 13 0.9398985554020745 0.3472695984129106 |
| Rhinitis 4 12 -0.939644363675278 0.347400012185397 |
| Diaphragmatic paralysis 1 5 0.9395910396603212 0.3474273741727269 |
| Blepharitis 12 22 0.9394057666285712 0.3475224534086978 |
| Abnormal circulating dehydroepiandrosterone concentration 1 3 0.9387912007173034 0.3478379575625185 |
| Impaired vibration sensation at ankles 3 4 -0.9383883701550916 0.3480448603973807 |
| Abnormal circulating proteinogenic amino acid concentration 27 49 0.937662404960276 0.3484179299623513 |
| Abnormal auditory evoked potentials 6 12 0.9371884950698912 0.3486616067260235 |
| Dystrophic toenail 2 7 0.9367592509799124 0.348882410489389 |
| Hyperlipidemia 16 47 0.9358660736636588 0.3493421467902198 |
| Abnormal hypothalamus morphology 4 8 -0.9353544989701492 0.349605637719963 |
| Abnormal femoral neck morphology 22 63 0.9346278530110416 0.3499801197302048 |
| Morning glory anomaly 1 3 0.9339416401244172 0.3503339978505235 |
| Upper limb hypertonia 1 2 -0.9338398505507896 0.3503865097795793 |
| Central heterochromia 2 2 -0.9335877385139892 0.3505165926225548 |
| Abnormal nipple morphology 28 106 -0.9333765324745148 0.3506255926730941 |
| Abnormal pharynx morphology 19 70 -0.9333447395868232 0.3506420023335923 |
| Absent toe 12 45 -0.9321190380262976 0.3512750102400597 |
| Abnormal circulating pyruvate family amino acid concentration 12 32 0.931331999777881 0.3516818540165365 |
| Iron deficiency anemia 3 8 0.9309060418795286 0.3519021689067407 |
| Dehydration 15 25 0.9305242824425284 0.352099697619368 |
| Keloids 5 6 -0.9296724340045897 0.3525407112513763 |
| Hamartomatous polyposis 5 8 -0.9294026308859924 0.3526804648884767 |
| Broad phalanx of the toes 4 12 -0.9286346165419976 0.3530784757329908 |
| Hypoplasia of the ventral pons 1 2 -0.9279356517097408 0.3534409496174695 |
| Neoplasm of the breast 14 51 0.9274885856974796 0.3536729154345748 |
| Soft tissue sarcoma 14 54 0.9274792504745808 0.3536777601576779 |
| Abnormality of frontal sinus 1 4 -0.9272060010633826 0.3538195876457595 |
| Glossoptosis 5 9 0.9266826390229228 0.3540913340304401 |
| Spondylolysis 1 3 0.9261854350262256 0.3543496204264806 |
| Eeg with abnormally slow frequencies 11 35 -0.9259483911640431 0.3544728013108558 |
| Metaphyseal chondrodysplasia 3 7 0.9254258080459168 0.3547444594383333 |
| Atrial arrhythmia 10 20 -0.9248930436864878 0.355021545427451 |
| Irregular hyperpigmentation 37 126 -0.9238240197621952 0.3555779471654423 |
| Short palm 21 45 -0.923727865518315 0.3556280201313784 |
| Respiratory insufficiency due to defective ciliary clearance 1 3 -0.9232617431286232 0.3558708195240143 |
| Coxa vara 9 23 0.9231919595384516 0.3559071782279053 |
| Erythema nodosum 0 2 0.922466998656928 0.3562850365126495 |
| Aplasia hypoplasia of the nipples 8 27 0.9224191668575504 0.356309975908208 |
| Portal fibrosis 3 5 0.9221938916810696 0.3564274486875529 |
| Absent sternal ossification 3 4 -0.9221492214990548 0.3564507454562275 |
| Oromotor apraxia 4 6 0.921378707774612 0.3568527412829876 |
| Adrenocorticotropic hormone excess 0 2 0.9208168738892886 0.3571460437255198 |
| Hypoplastic fifth toenail 7 10 0.9206395634916444 0.3572386392007196 |
| Emg myopathic abnormalities 18 45 0.9204309762766968 0.3573475874842287 |
| Broad alveolar ridges 5 8 -0.9198819452783964 0.3576344547420307 |
| Upper limb undergrowth 18 40 -0.919411928636018 0.3578801523404413 |
| Upper limb muscle weakness 21 37 0.9189963520475848 0.3580974802780718 |
| Abnormality of the supraorbital ridges 11 41 -0.9185886462935126 0.3583107727947334 |
| Chronic diarrhea 13 30 0.9185261907834348 0.3583434536436489 |
| Enuresis 2 5 -0.9184942774405164 0.358360153536744 |
| Talipes equinovarus 28 143 -0.918254169694634 0.3584858149135481 |
| Abnormality of dental morphology 41 115 -0.918129671313096 0.3585509825623609 |
| Unilateral renal agenesis 9 33 0.917959399006016 0.3586401222554756 |
| Amelogenesis imperfecta 6 6 -0.917892389932995 0.3586752061683205 |
| Embryonal neoplasm 17 35 0.9175945599374166 0.3588311670072075 |
| Bowel diverticulosis 6 12 0.9173369355792256 0.3589661082568276 |
| Talipes calcaneovalgus 4 7 0.9173193280112087 0.3589753321020896 |
| Foot dorsiflexor weakness 26 50 0.917199338289688 0.3590381935075848 |
| Foot oligodactyly 0 2 0.9170223485156932 0.3591309292950129 |
| Congenital contracture 27 68 0.9167177965411476 0.3592905379707092 |
| Abnormal pupil morphology 7 22 -0.9157929869402736 0.3597754825183412 |
| Weakness of long finger extensor muscles 1 4 -0.9154906648532088 0.3599341009683034 |
| Abdominal distention 15 43 -0.91498616420059 0.3601988936274198 |
| Abnormality of complement system 2 6 0.9149758974347488 0.3602042835205921 |
| Advanced ossification of carpal bones 3 3 -0.9144709691516664 0.3604694255311655 |
| Productive cough 6 15 -0.914377812443927 0.3605183562682179 |
| Facial diplegia 6 16 0.9143036526592744 0.3605573118152811 |
| Neoplasm of the pancreas 16 41 0.9129305791115953 0.361279053637956 |
| Absent septum pellucidum 23 52 0.9117713568518224 0.3618890915383961 |
| Bicarbonaturia 0 2 0.9112090279865652 0.3621852481204652 |
| Hyperpituitarism 14 28 0.9109477548541444 0.3623229020906429 |
| Neoplasm of the rectum 8 23 0.9107944750284152 0.362403674119691 |
| Premature skin wrinkling 12 29 0.910666067517304 0.3624713481645008 |
| Radioulnar synostosis 15 31 0.9105969724563272 0.3625077663050227 |
| Cortical dysplasia 21 47 0.91028952299858 0.3626698423926535 |
| Distal lower limb amyotrophy 12 18 0.909918067634874 0.3628657205642822 |
| Choriocarcinoma 0 4 0.9097756049168088 0.3629408624662642 |
| Widened subarachnoid space 13 47 -0.9088811599058316 0.3634128596479304 |
| Abnormal glomerular mesangial cellularity 1 2 -0.9079554989559332 0.3639017336213905 |
| Hydrocephalus 47 143 -0.9069697706301506 0.3644227832055793 |
| Microglossia 3 5 0.9068498463764996 0.3644862061864948 |
| Aplasia hypoplasia of the colon 2 4 -0.9067918873548902 0.3645168607898428 |
| Chordee 4 8 0.9045557818183384 0.3657007699557941 |
| Central apnea 6 10 0.9034186019557388 0.3663037709754504 |
| Eruption failure 3 10 0.9034130376466656 0.3663067230300338 |
| Peptic ulcer 8 16 0.90329818511953 0.3663676595032987 |
| Abnormal sclera morphology 16 47 0.9028666374809892 0.3665966791129915 |
| Aplasia cutis congenita of scalp 3 9 0.9027259266618451 0.3666713727523998 |
| Atlantoaxial instability 0 2 0.9011757120654222 0.3674949024717535 |
| Head titubation 5 9 0.900976695111907 0.3676007108281593 |
| Proximal tubulopathy 15 35 0.9008815763908784 0.3676512878722817 |
| Pathologic fracture 6 24 0.9008390479795346 0.3676739027128051 |
| Mild postnatal growth retardation 1 3 0.900259528184272 0.3679821535802035 |
| Foam cells 4 7 0.8990628207276119 0.3686192001750026 |
| Heterogeneous 17 71 0.8985131119204147 0.3689120580541671 |
| Incomplete penetrance 18 45 0.8985027134262404 0.3689175992560163 |
| Neoplasm of the ear 1 6 0.897724079188876 0.3693326688544958 |
| Bilateral cleft palate 2 5 -0.8974645011864908 0.369471107624852 |
| Facial grimacing 2 5 -0.896021474631272 0.3702412940518829 |
| Abnormal male reproductive system physiology 28 71 -0.8958922204755128 0.3703103294905505 |
| Stomatitis 10 22 0.8958150464795452 0.3703515524076293 |
| Proximal femoral metaphyseal abnormality 1 4 0.8957233847049048 0.3704005177546126 |
| Insidious onset 2 7 0.8952162025976923 0.370671525037457 |
| Triangular face 30 64 0.8948530541716719 0.3708656450891945 |
| Parietal foramina 2 4 -0.8944121346768216 0.3711014222708844 |
| Hand muscle weakness 9 16 0.8939882931208062 0.3713281548667533 |
| Vertigo 13 39 0.8932039754094173 0.3717479495737792 |
| Hypocholesterolemia 5 11 0.8927752325268282 0.3719775523664044 |
| Narrow palm 3 3 -0.8926606432568601 0.3720389327413966 |
| Coloboma 34 90 -0.8924695378526792 0.3721413133736728 |
| Cholangitis 1 3 -0.8923368061481496 0.3722124318216337 |
| Renal cortical microcysts 1 3 0.8922956317770541 0.3722344950099359 |
| Self mutilation 5 21 -0.8921529470737718 0.3723109585387527 |
| Impaired mastication 3 9 0.8914111499857754 0.3727086381845359 |
| Vestibular dysfunction 19 47 0.8913923417257265 0.3727187247687853 |
| Progressive flexion contractures 2 4 -0.890645031399541 0.373119632787604 |
| Left ventricular systolic dysfunction 4 13 -0.8905064119286601 0.3731940270372105 |
| Mania 8 22 0.889752036391349 0.3735990460165967 |
| Megalocornea 8 18 0.8894095430761605 0.373783018057678 |
| Increased serum serotonin 2 5 -0.889144455857591 0.3739254494967152 |
| Rib segmentation abnormalities 2 5 0.8888177081939532 0.3741010573085068 |
| Abnormality of abdominal situs 2 5 0.8888177081939532 0.3741010573085068 |
| Hypoplastic pubic rami 2 5 0.8888177081939532 0.3741010573085068 |
| Thickened ears 0 2 0.8878833135992114 0.3746035213870544 |
| Protuberant abdomen 6 13 -0.8874821145903634 0.3748193912913056 |
| Macular atrophy 5 9 0.8872658679225831 0.3749357772715429 |
| Abnormality of corneal size 23 65 0.8870074467535997 0.3750748912539239 |
| Arachnodactyly 15 51 0.8867484410465626 0.3752143519062672 |
| Abnormality of the pulmonary veins 5 13 -0.8858790665387781 0.37568269756111 |
| Facial hyperostosis 1 3 -0.8855769798010273 0.3758455208944129 |
| Abnormal circulating androgen level 12 25 -0.8854488846287167 0.3759145767440315 |
| Open mouth 18 49 0.885169068124888 0.3760654525014673 |
| Abnormality of circulating adrenocorticotropin level 8 18 -0.884256487186866 0.3765577715953498 |
| Reduced forced expiratory volume in one second 1 3 -0.8833200575933938 0.3770633697144636 |
| Narrow jaw 1 3 -0.8828228579765257 0.3773319883425943 |
| Achilles tendon contracture 6 16 0.8825717150440142 0.3774677164434667 |
| Anorexia 16 42 0.882409533563605 0.3775553820590402 |
| Follicular hyperkeratosis 4 9 0.8822930732926048 0.3776183412610385 |
| Severe postnatal growth retardation 6 15 0.8820141686299731 0.377769145287151 |
| Bilateral coxa valga 1 3 0.8816786007413632 0.3779506363495866 |
| Furrowed tongue 8 14 -0.8812887311151612 0.3781615638154594 |
| Congenital diaphragmatic hernia 14 38 -0.8802062325285753 0.3787475977679007 |
| Abnormality of alkaline phosphatase level 8 35 0.8792335138597349 0.3792746765417103 |
| Facial edema 18 43 0.8785120368213416 0.3796659084569243 |
| Mutism 7 25 0.8782756735329358 0.3797941339967812 |
| Communicating hydrocephalus 4 10 -0.878274649971957 0.3797946893298176 |
| Abnormality of the temporomandibular joint 2 5 0.8773666891007899 0.3802875001456973 |
| Cardiac conduction abnormality 12 55 -0.8767621493645185 0.380615841915862 |
| Streak ovary 4 8 0.8759949264135705 0.3810327919569847 |
| Intellectual disability borderline 3 6 -0.8759438561724152 0.3810605562125622 |
| Chorioretinal coloboma 8 16 -0.8753345722065877 0.3813918882703397 |
| Hypergalactosemia 1 4 0.8752202634268171 0.3814540697219344 |
| Abnormal uvea morphology 69 186 -0.8736907519054581 0.3822866886792335 |
| Abnormal uterus morphology 19 58 -0.8736745889015475 0.3822954932664868 |
| Patent foramen ovale 19 52 -0.8733845209283276 0.3824535251790371 |
| Postural tremor 7 27 0.8730005619989986 0.3826627713961008 |
| Abnormal muscle fiber alpha dystroglycan 1 4 -0.8723190057569388 0.3830343720877232 |
| Abnormal blood transition element cation concentration 9 17 0.8716906108170072 0.3833771837835373 |
| Nephropathy 10 35 0.8712576948501537 0.3836134640530728 |
| Flat acetabular roof 6 11 -0.8712179903406118 0.3836351387541161 |
| Ventilator dependence with inability to wean 2 2 -0.8695327937115872 0.3845557791283958 |
| Nonprogressive cerebellar ataxia 1 4 0.8686349085133517 0.3850468544337975 |
| Amaurosis fugax 5 12 0.8683925091165123 0.3851794942600488 |
| Aminoaciduria 27 59 0.8668725015127668 0.38601187183815 |
| Abnormality of upper limb epiphysis morphology 11 23 0.8668048911256444 0.3860489217366238 |
| Hypocalcemic tetany 0 2 0.8666350899644781 0.3861419808564594 |
| Hypocalcemic seizures 0 2 0.8666350899644781 0.3861419808564594 |
| Decreased methylcobalamin 4 7 -0.8663270781181681 0.3863108209637125 |
| Facial asymmetry 19 53 0.8656437347797674 0.3866855640565096 |
| Lumbar scoliosis 2 6 0.8654906643874322 0.3867695377229405 |
| Long neck 0 3 0.8643243387794929 0.3874097435439285 |
| Hydroureter 8 24 -0.8641669988694008 0.3874961581623792 |
| Hyperinsulinemic hypoglycemia 4 9 0.8641200893326957 0.3875219242092116 |
| Choroid plexus carcinoma 2 4 0.8639658059513101 0.3876066749586979 |
| Angioedema 1 2 -0.8633607676880898 0.38793914282343 |
| Angiofibromas 6 11 -0.8631587124838465 0.388050210632342 |
| Adenoma sebaceum 6 11 -0.8631587124838465 0.388050210632342 |
| Enamel hypoplasia 11 25 -0.8630961768173818 0.3880845898145173 |
| Temporal cortical atrophy 4 8 -0.8624595876111372 0.3884346623458548 |
| Sclerotic vertebral endplates 2 2 -0.862206614667179 0.3885738303686405 |
| Renal tubular acidosis 11 22 0.8616597078669553 0.3888748040011596 |
| Cystic hygroma 5 15 -0.8613254123071148 0.3890588433232866 |
| Cavum septum pellucidum 7 17 0.8607242380075696 0.3893899404203833 |
| Turricephaly 5 16 0.8596048221431453 0.3900069159747614 |
| Hypoplastic ilia 9 19 -0.8592526881680812 0.3902011204242674 |
| Biconcave vertebral bodies 4 8 0.8591921772182824 0.3902344985707853 |
| Abnormality of the nasal cavity 1 2 -0.8591626503639905 0.3902507863632292 |
| Hypokinesia 6 18 0.8579173527140006 0.3909381015814157 |
| Skin dimple 17 41 0.8551698041435593 0.3924571501511291 |
| Amyotrophic lateral sclerosis 8 26 0.8547302963249526 0.3927004742652873 |
| Abnormally large globe 10 18 -0.8531977263714958 0.3935496640223723 |
| Secondary growth hormone deficiency 5 9 -0.852444308126934 0.3939675369178341 |
| Choking episodes 1 3 -0.8519992704631681 0.3942144969652723 |
| Lymphopenia 14 44 0.8518677060469829 0.3942875225533653 |
| Highly arched eyebrow 26 107 -0.8517766213122815 0.3943380844555686 |
| Abnormal right ventricle morphology 4 15 -0.8508778275870874 0.3948372227375287 |
| Abnormal t cell activation 2 2 -0.8496608058514203 0.3955136951233871 |
| Ischemic stroke 4 7 -0.8495367385109933 0.3955826963372382 |
| Abnormality of the pylorus 21 56 0.8492745793557073 0.3957285225285543 |
| Metaphyseal dysplasia 6 16 0.8492270939478679 0.3957549397893893 |
| Broad metacarpals 0 2 0.8485597619122313 0.3961263051371078 |
| Tissue ischemia 14 32 0.8482326553622981 0.3963084143433248 |
| Ovarian neoplasm 15 34 0.8481430939769683 0.3963582844406772 |
| Aplasia hypoplasia of the eyelid 11 19 0.8481305031536417 0.3963652956407024 |
| Muscle fiber necrosis 1 3 0.847472325979165 0.3967319058487506 |
| Multifactorial inheritance 8 18 0.8473416271857304 0.3968047305167679 |
| Abnormal circulating glutamine concentration 3 5 -0.8473097792461486 0.3968224772403559 |
| Disproportionate short stature 19 48 -0.8469895268322137 0.3970009590799781 |
| Abnormal head movements 8 15 0.8459929923856611 0.3975566535428096 |
| Abnormality of the metopic suture 8 24 -0.8445881289459797 0.3983408393090286 |
| Cardiac arrest 20 50 0.8439392900476247 0.3987033313405497 |
| Abnormal upper limb bone morphology 70 183 -0.8434375454001576 0.3989837811821426 |
| Neuroendocrine neoplasm 6 19 0.8434287425763722 0.3989887025743914 |
| Hypoglycemic seizures 5 9 0.8431481393151032 0.3991455985075078 |
| Broad nail 2 2 -0.8423505398829885 0.3995917693446653 |
| Unconjugated hyperbilirubinemia 1 4 0.8419662762017849 0.3998068304589424 |
| Bowing of the arm 3 8 0.8417243645700118 0.3999422570021029 |
| Abnormal waist to hip ratio 5 8 0.8412470050017055 0.400209572495652 |
| Adrenocortical carcinoma 1 6 0.8404276404768467 0.4006686568664912 |
| Middle age onset 4 13 0.8399869136774606 0.4009157239002883 |
| Abnormal circulating fatty acid concentration 14 30 0.8399167479513096 0.4009550665462138 |
| T cell lymphoma 3 6 0.8397219861972999 0.4010642836194615 |
| Genu varum 8 21 -0.8392055685404076 0.4013539630147624 |
| Blurred vision 3 9 -0.8385095117144921 0.4017446079129256 |
| Brachyturricephaly 2 3 -0.8377686961062721 0.4021606231196926 |
| Fibroadenoma of the breast 1 5 0.8373458197110523 0.4023982109795854 |
| Movement abnormality of the tongue 2 6 0.8360347900848275 0.4031353314758352 |
| Arthrogryposis multiplex congenita 22 58 0.8350738306169084 0.4036761400418165 |
| Toenail dysplasia 1 2 -0.8346771656442258 0.4038995016732407 |
| Breast aplasia 3 8 -0.8343664485966233 0.4040745177796159 |
| Pulmonary carcinoid tumor 2 5 -0.8342654531265047 0.4041314147878179 |
| Impaired proprioception 27 62 0.8340305791543954 0.4042637523928891 |
| Extramedullary hematopoiesis 2 5 0.8317902011177334 0.4055273758358626 |
| Diplopia 7 31 0.8304415580235848 0.4062891773729915 |
| Medial flaring of the eyebrow 5 8 -0.8298408596391741 0.4066287658020948 |
| Abnormal tricuspid valve physiology 16 30 0.8296913356266353 0.4067133214402672 |
| Stomatocytosis 0 3 0.8294352794279404 0.4068581452578428 |
| Sensorimotor neuropathy 27 49 0.8288428420930686 0.407193342102494 |
| Truncal titubation 3 5 -0.8286212282142057 0.4073187719774143 |
| Abnormal arterial physiology 18 43 0.8285059468595801 0.4073840284697239 |
| Natal tooth 5 12 0.8272429722954306 0.4080993595958473 |
| Abnormality of chromosome stability 15 29 -0.826601828736773 0.408462780510137 |
| Dysgraphia 10 23 0.8260938214394786 0.4087508722850193 |
| Retinal dysplasia 4 12 0.8258682016927612 0.4088788603959838 |
| Testicular dysgenesis 0 3 0.825498808117957 0.4090884590843062 |
| Upper limb postural tremor 2 4 0.8241620109769562 0.4098475092425744 |
| Left ventricular hypertrophy 19 45 -0.8235472773222157 0.4101968435963179 |
| Degeneration of the lateral corticospinal tracts 3 12 0.8235331004372899 0.4102049019738873 |
| Metaphyseal cupping 5 8 -0.8233376795430529 0.4103159920524264 |
| Midline defect of the nose 2 4 -0.822717122802226 0.4106688757855719 |
| Skin appendage neoplasm 3 10 -0.8219339843378103 0.4111144699086511 |
| 2 3 toe syndactyly 15 51 0.8218988757742366 0.4111344528787448 |
| Asymmetry of the ears 1 4 0.8213064540121364 0.4114717323878045 |
| Shallow orbits 6 13 0.8212837749726271 0.4114846473557307 |
| Abnormal foveal morphology 4 7 -0.8205809426597781 0.4118850064997528 |
| Fused cervical vertebrae 5 10 0.8193291950799676 0.4125986199191109 |
| Small hand 22 50 0.8187278148785008 0.412941723417314 |
| Birth length greater than 97th percentile 2 3 -0.8182714419931999 0.413202209134152 |
| Eeg with focal epileptiform discharges 14 63 -0.8178297877891727 0.4134543864495128 |
| Female sexual dysfunction 6 14 -0.8158240844405114 0.4146007562638689 |
| Fatty replacement of skeletal muscle 3 11 0.8155408881140257 0.4147627698306542 |
| Abnormality of the diaphragm 16 46 -0.8155192550485911 0.4147751474128611 |
| Platybasia 3 9 0.8151592418981851 0.4149811647158148 |
| Spondyloepiphyseal dysplasia 1 3 0.8149887841963803 0.4150787301240002 |
| Hypometric saccades 1 4 0.8148729362729642 0.4151450460990828 |
| Delayed eruption of permanent teeth 4 10 -0.8145870963724349 0.4153086990466481 |
| Incomitant strabismus 8 29 -0.8137367747536264 0.4157957620385435 |
| Limb girdle muscle weakness 14 41 0.8132012866492865 0.4161026618621546 |
| Decreased circulating acth level 6 11 -0.812460223349422 0.4165276017710191 |
| Glioma 8 23 0.812319893473103 0.4166080984359372 |
| Hypertension associated with pheochromocytoma 5 12 0.8120355465377497 0.4167712349594392 |
| Abnormal large intestine physiology 13 35 0.8120077276620918 0.4167871973257893 |
| Pilomatrixoma 2 6 -0.8118945652835668 0.4168521331901336 |
| High narrow palate 23 57 0.8115288341629676 0.4170620411448942 |
| Pituitary adenoma 7 19 0.8113688539317149 0.4171538798916629 |
| Cerebral hamartoma 3 7 -0.8110978942038894 0.4173094550668841 |
| Elevated circulating alanine aminotransferase concentration 8 14 0.8102244234724278 0.4178112028157223 |
| Recurrent lower respiratory tract infections 20 42 0.8094143706566584 0.4182768388842603 |
| Abnormal temper tantrums 7 12 0.809378699937428 0.4182973502146272 |
| Ovarian cyst 11 26 0.8091928709578884 0.4184042149299256 |
| Abnormal forearm bone morphology 19 42 -0.8089399745223654 0.4185496739600989 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 1 3 -0.8075751751737694 0.4193351823717091 |
| Iris coloboma 17 57 0.8074941983525875 0.4193818156991931 |
| Adducted thumb 16 42 0.8066888834443139 0.4198457503258923 |
| Anophthalmia 11 21 -0.8064079968996576 0.4200076374431285 |
| Distal upper limb amyotrophy 11 17 0.806231912964881 0.4201091409649409 |
| Nasal speech 29 57 0.8060366608565424 0.4202217108229875 |
| Abnormality of adrenal physiology 26 53 0.8059469687307431 0.4202734274960533 |
| Abnormal foot bone ossification 1 6 0.8058153037654936 0.4203493525710129 |
| Coarse hair 15 29 0.804335088644774 0.4212034781982767 |
| Back pain 10 36 0.8033584731876721 0.4217675698766898 |
| Recurrent bronchopulmonary infections 4 6 0.8031884993321939 0.4218657917697386 |
| Penetrating foot ulcers 1 3 0.802918588992383 0.4220217909851709 |
| Trophic changes related to pain 1 3 0.802918588992383 0.4220217909851709 |
| Renovascular hypertension 5 11 0.8013316903144132 0.422939649369777 |
| Esophagitis 3 10 0.801286538021437 0.4229657824398112 |
| Abnormality of the glabella 4 9 0.8011562144780372 0.4230412159006396 |
| Choroidal melanoma 2 5 -0.8010735674805818 0.4230890574553938 |
| Uveal melanoma 2 5 -0.8010735674805818 0.4230890574553938 |
| Inferior lens subluxation 2 5 -0.8010735674805818 0.4230890574553938 |
| Mydriasis 2 5 -0.8010735674805818 0.4230890574553938 |
| White forelock 1 3 0.8007202365685349 0.4232936244998226 |
| Corneal scarring 2 5 -0.8005770953308279 0.4233765150713846 |
| Abnormality of the thymus 8 24 0.8005243194199613 0.4234070790694593 |
| Pectus carinatum 20 61 -0.8004805376588827 0.4234324352851581 |
| Vascular neoplasm 22 66 -0.8000392380751572 0.4236880636457696 |
| Acute phase response 15 46 -0.800000515596056 0.4237104984392108 |
| Oculomotor nerve palsy 6 11 -0.7995277297103123 0.4239844742802787 |
| Depressed nasal ridge 15 32 0.7990120218742983 0.4242834411824032 |
| Oligodontia 5 16 0.7987676167810018 0.4244251710977402 |
| 3 4 finger syndactyly 1 3 0.7976556944967296 0.4250703213824383 |
| Fatiguable weakness of proximal limb muscles 3 5 0.7975128281554167 0.4251532556085484 |
| Bifid tongue 4 9 -0.7972962653129666 0.4252789888349655 |
| Blue sclerae 12 39 0.7960842040778162 0.4259830946493383 |
| Shuffling gait 6 18 0.7957734737953843 0.4261637123351709 |
| Supraventricular tachycardia 7 11 -0.7953545272118577 0.4264073034428528 |
| Generalized myoclonic atonic seizure 2 4 -0.7950585731575323 0.4265794310558402 |
| Leukocytosis 11 45 0.7945198601302953 0.4268928518586616 |
| Pterygium 9 17 0.7943138810092734 0.4270127250414623 |
| Elevated gamma glutamyltransferase level 3 5 0.7940736342138109 0.4271525656821633 |
| Finger agnosia 2 4 -0.7936833559728356 0.4273797921181534 |
| Limited hip movement 6 22 0.7934770242158823 0.4274999503210115 |
| Abnormal eating behavior 10 37 -0.7917906879153496 0.4284827329579888 |
| Skin vesicle 7 16 0.791695596478482 0.4285381905692373 |
| Gowers sign 12 28 -0.7916619660254002 0.4285578049497964 |
| Holoprosencephaly 6 23 -0.7915351108218454 0.4286317957549361 |
| Cerebral calcification 12 54 0.789597758916576 0.4297627174821954 |
| Urethrovaginal fistula 3 4 -0.7894119158443818 0.4298712936921607 |
| Narrow nose 4 8 0.7878758223012218 0.4307693446803604 |
| Right ventricular hypertrophy 2 8 -0.7873304552285947 0.4310884459098458 |
| Pruritus 16 36 0.7868769595621452 0.4313538963705845 |
| Asthma 12 36 -0.7864681775111277 0.431593255225557 |
| Spinal rigidity 9 18 0.7862054829956607 0.4317471143888443 |
| Ulnar deviation of finger 5 10 0.7861973265581172 0.4317518920915286 |
| Chest pain 12 33 -0.7861660711256957 0.4317702005106276 |
| Abnormal talus morphology 12 31 0.7860087819965398 0.4318623422120122 |
| Large fleshy ears 1 4 0.7857119979287157 0.4320362326092324 |
| Iron accumulation in globus pallidus 0 2 0.7855170317649961 0.4321504883856444 |
| Gastrointestinal inflammation 13 33 0.784715856932115 0.4326201835571472 |
| Pulmonic stenosis 11 51 -0.7846750575925313 0.4326441104024165 |
| Joint subluxation 4 8 0.7846346229095649 0.4326678241499366 |
| Broad thumb 14 52 -0.7846263681815726 0.4326726653966175 |
| Aplasia hypoplasia of the distal phalanx of the thumb 2 4 -0.7845718379552765 0.4327046471626818 |
| Ulnar deviation of the wrist 2 7 0.7836042485783146 0.433272362089006 |
| High anterior hairline 31 32 0.7831562989935211 0.4335353339435706 |
| Entropion 7 12 0.7827716788731182 0.4337612014308674 |
| Septic arthritis 1 2 -0.7820486997025826 0.43418595374074 |
| Cellular immunodeficiency 6 20 -0.7809356370646489 0.4348403507733756 |
| Abnormal chromosome morphology 1 3 -0.7799739433493552 0.4354062125340121 |
| Deposits immunoreactive to beta amyloid protein 2 5 -0.7793616893868466 0.4357666847406851 |
| Abnormal circulating branched chain amino acid concentration 2 8 0.7787190535481283 0.4361452297220562 |
| Abnormal circulating follicle stimulating hormone concentration 7 15 -0.7783764459720056 0.4363471203379698 |
| Abnormal 5th finger morphology 52 193 -0.7782550335213645 0.4364186787726329 |
| Abnormality of the intervertebral disk 8 16 -0.7781223244373984 0.4364969029858003 |
| Contiguous gene syndrome 1 2 -0.77790813287029 0.4366231733791494 |
| Angioid streaks of the fundus 3 4 -0.7778347033547963 0.436666466452307 |
| Scarring 19 49 0.7763293375796313 0.4375545550980653 |
| Aplasia hypoplasia of the scapulae 6 10 -0.7762667541818645 0.4375914985844806 |
| Telangiectasia of the skin 17 39 -0.7760995712499907 0.4376901968239604 |
| Respiratory failure requiring assisted ventilation 3 11 -0.7753663621140645 0.4381232059468765 |
| Hypergranulosis 3 5 -0.7748313655676922 0.4384393126452661 |
| Elevated alkaline phosphatase of bone origin 2 3 -0.7742655003725984 0.4387738009391633 |
| Retinal dystrophy 25 103 -0.773338029767624 0.4393223546227589 |
| Central adrenal insufficiency 3 7 0.7720605452872404 0.440078568845202 |
| Cerebral hemorrhage 9 24 -0.771342382042266 0.4405040173713397 |
| Abdominal wall muscle weakness 4 5 0.7713208488737062 0.4405167775194714 |
| Very long chain fatty acid accumulation 7 13 -0.7702632847409108 0.4411437307704842 |
| Dysmetric saccades 3 10 0.7699906590387675 0.4413054336654423 |
| Abnormality of limb epiphysis morphology 22 48 0.7699737471154818 0.4413154657784028 |
| Limb undergrowth 41 99 -0.7697813265725322 0.441429618388758 |
| Finger clinodactyly 45 160 -0.768083894947331 0.4424373442990432 |
| Central sleep apnea 5 8 0.7677163419432134 0.4426557252209691 |
| Flushing 5 17 0.7675888376731796 0.4427314960405255 |
| Decreased urine output 1 3 0.7659097665432885 0.4437299942637631 |
| Progressive gait ataxia 6 17 0.765556575515769 0.4439401910282137 |
| Ineffective esophageal peristalsis 4 7 0.7654124453525047 0.4440259844369245 |
| Focal cortical dysplasia 1 4 0.7652311686250779 0.4441339027582733 |
| Intestinal hypoplasia 3 6 0.7651635222309544 0.4441741780917816 |
| Broad eyebrow 12 17 0.7651499629505398 0.4441822512716573 |
| Episodic tachypnea 7 16 -0.7642937851335578 0.4446921881484393 |
| Recurrent ear infections 2 6 0.7637940432776227 0.4449899871503127 |
| Conical tooth 7 16 -0.7636326313737363 0.445086197710332 |
| Hypogonadotropic hypogonadism 20 51 -0.7630350852567708 0.4454424719660725 |
| Duodenal atresia 4 10 0.7628097824490222 0.4455768461916956 |
| Overlapping fingers 3 14 -0.7622262613924788 0.4459249749171943 |
| Insomnia 10 24 0.7619563652626344 0.4460860473636658 |
| Flared metaphysis 9 20 -0.7616135283465996 0.4462906982150965 |
| Neoplasm of the thyroid gland 13 41 0.7612508025223685 0.4465072796062597 |
| Intestinal polyp 9 33 0.759656267801814 0.4474600758488813 |
| Irregular femoral epiphysis 0 4 0.7591318724061858 0.4477736747979337 |
| Polyarticular arthropathy 2 3 -0.7588687712275249 0.4479310616136898 |
| Bile duct proliferation 2 7 -0.7588379330513022 0.4479495110321922 |
| Proximal muscle weakness in lower limbs 9 29 0.7585935614039273 0.448095725436219 |
| Freckling 9 24 -0.7584866665072129 0.4481596921705999 |
| Progressive encephalopathy 1 4 0.7580183929195117 0.4484399718356033 |
| Abnormal circulating creatinine concentration 4 8 0.7575833197282521 0.4487004689666247 |
| Increased level of hippuric acid in urine 3 6 0.7568837632362763 0.4491195037249187 |
| Decreased lymphocyte proliferation in response to mitogen 3 4 -0.7564122170467217 0.4494020853969043 |
| Short 1st metacarpal 3 9 0.7560873711943985 0.4495968131683248 |
| Abnormality of corneal thickness 12 26 0.7558856757540079 0.4497177429032226 |
| Decreased pulmonary function 4 8 -0.7557889208479123 0.4497757604024617 |
| Retinal fold 1 3 0.7551243084743576 0.4501743990115927 |
| Purpura 15 39 -0.7549380809725644 0.4502861353135541 |
| Pulmonary artery stenosis 5 28 -0.7547230811857162 0.450415154494161 |
| Progressive macrocephaly 0 2 0.7546723038223082 0.4504456285287732 |
| Broad foot 6 14 0.7538010827164614 0.4509686737558056 |
| Skin rash 13 32 0.7535121319861928 0.4511422237476004 |
| Prominent nasal bridge 37 93 -0.7527619489720812 0.4515929761229829 |
| Cutaneous melanoma 3 8 -0.7523785263696532 0.4518234564350727 |
| Chronic lung disease 5 11 0.7513702577120631 0.4524298571520913 |
| Abnormality of prothrombin 5 21 -0.7512604491278577 0.4524959268341202 |
| Axonal degeneration regeneration 1 6 0.750876164120262 0.4527271865357796 |
| Decreased activity of mitochondrial complex iii 5 11 0.7507739374633191 0.4527887169746665 |
| Abnormal transferrin saturation 1 2 -0.7505280783001774 0.4529367194565152 |
| Nephrotic syndrome 22 51 -0.7504954682489217 0.4529563521310831 |
| Dysgerminoma 0 2 0.7500636361139442 0.4532163792364612 |
| Ovarian papillary adenocarcinoma 0 2 0.7500636361139442 0.4532163792364612 |
| Esophageal carcinoma 0 3 0.7493355658156311 0.4536549764570647 |
| Dental malocclusion 17 39 0.748628875131398 0.4540809232845928 |
| Abnormality of primary teeth 13 23 0.7479001191650925 0.454520405690141 |
| Metacarpophalangeal joint contracture 1 3 -0.7478667139932444 0.4545405567035159 |
| Occipital encephalocele 3 9 -0.7470394044370545 0.4550397755322155 |
| Alveolar rhabdomyosarcoma 2 2 -0.7469321666080742 0.4551045080607072 |
| High hypermetropia 4 20 -0.7468231396510969 0.4551703258855646 |
| Abnormal thalamic size 1 5 -0.7464339862693008 0.4554052952408567 |
| Macrogyria 3 9 0.7454318119982257 0.4560107185352504 |
| Hemoptysis 3 10 -0.7447255692670983 0.4564376384749034 |
| Macrovesicular hepatic steatosis 4 10 0.7446997678717018 0.4564532395330767 |
| Narrow internal auditory canal 2 4 0.7444897216534668 0.4565802571220736 |
| Abnormality of the internal auditory canal 2 4 0.7444897216534668 0.4565802571220736 |
| Long upper lip 4 4 -0.7443440017548547 0.456668387447646 |
| Decreased serum iron 2 3 -0.742428488724808 0.457827764122829 |
| Abnormal circulating sex hormone concentration 16 34 0.7419275264262893 0.4581312470606873 |
| Recurrent hypoglycemia 4 7 -0.7413626797689264 0.4584735664551933 |
| Adrenal hyperplasia 2 8 0.7408577770691691 0.4587796788060405 |
| Abnormal circulating estrogen level 8 16 0.7403675944484546 0.4590769762357993 |
| Sandal gap 19 49 -0.7397818832006314 0.4594323536091351 |
| Lacrimation abnormality 11 26 0.737875229558022 0.4605902726300812 |
| Steppage gait 17 32 0.7377334132376618 0.4606764634556708 |
| Apneic episodes in infancy 2 2 -0.7376742139236001 0.4607124453236393 |
| Heterophoria 2 4 -0.7376563182301571 0.4607233227940903 |
| Inappropriate behavior 11 27 0.7375502654681964 0.4607877873829871 |
| Pseudohypoparathyroidism 1 2 -0.7374688468161168 0.4608372814528829 |
| Diaphyseal sclerosis 1 2 -0.7374688468161125 0.4608372814528856 |
| Deviation of the 2nd finger 1 7 0.7371161941972159 0.461051691867695 |
| Abnormal urine alpha ketoglutarate concentration 5 9 0.7367840253562514 0.4612536992635494 |
| Abnormal aortic valve cusp morphology 15 42 -0.7366386606679853 0.4613421178783243 |
| Abnormality of renal excretion 5 10 0.7359162820854385 0.4617816477727561 |
| Metatarsus adductus 8 22 0.7352117526284925 0.4622105425305778 |
| Glomerulopathy 7 14 0.7346315148600124 0.4625639394002934 |
| Hyperintensity of cerebral white matter on mri 15 33 0.7333941124066037 0.4633180890920227 |
| Eversion of lateral third of lower eyelids 1 3 0.7333204221972847 0.4633630220767646 |
| Speech apraxia 22 39 0.7327034307358943 0.4637393310648507 |
| Orofacial dyskinesia 3 9 0.7315232802781644 0.4644595900534034 |
| Reduced sperm motility 2 5 -0.7303868625347114 0.4651537464064352 |
| Abdominal aortic aneurysm 3 7 -0.728741438759492 0.4661598395292374 |
| Overlapping toe 14 33 0.7286945310712989 0.4661885389025268 |
| Generalized hirsutism 17 39 0.727899316290872 0.4666752217494998 |
| Decreased circulating igg level 12 25 -0.7253128510761402 0.4682601235928811 |
| Eeg with focal spike waves 3 5 -0.7249399544865849 0.4684888680873591 |
| Abnormal larynx morphology 19 53 -0.7247904702857461 0.4685805829610971 |
| Disproportionate tall stature 24 45 0.7245595849365555 0.4687222604064125 |
| Undetectable light and dark adapted electroretinogram 2 6 0.7244297630108274 0.4688019330345021 |
| Hyperautofluorescent retinal lesion 1 3 -0.7238387126126425 0.4691647595252721 |
| Shallow anterior chamber 1 3 -0.723471710498781 0.4693901282460586 |
| Aplasia hypoplasia involving bones of the feet 46 129 -0.7230872633751071 0.4696262737828067 |
| Glomerular deposits 1 3 0.7227884654842753 0.4698098548700282 |
| Hypochromic anemia 6 18 0.7211982590743935 0.4707875427653358 |
| Cerebral white matter hypoplasia 4 9 0.7211638228180078 0.4708087272185663 |
| Large face 43 130 -0.7211425913212892 0.470821788646401 |
| Abnormality of the metacarpal bones 31 73 -0.7205732162991904 0.4711721376773812 |
| Petechiae 8 21 -0.7198502447064374 0.4716172052410385 |
| Acidemia 7 19 0.718383027517896 0.472521148916468 |
| Emg impaired neuromuscular transmission 3 11 -0.7182338217011409 0.4726131271377451 |
| Abnormal heart valve morphology 42 137 -0.7175115692678115 0.4730585004087451 |
| Ketosis 12 28 0.7174215702255307 0.4731140140365579 |
| Reactive hypoglycemia 2 3 -0.7171355058144355 0.4732904894196765 |
| Hepatic encephalopathy 2 5 0.7170364952552903 0.47335157824657 |
| Abnormality of the radioulnar joints 0 4 0.716994783124952 0.473377315639591 |
| Radioulnar dislocation 0 4 0.716994783124952 0.473377315639591 |
| Impotence 9 18 -0.7162351024035507 0.4738461916620922 |
| Erectile dysfunction 9 18 -0.7162351024035507 0.4738461916620922 |
| Increased cerebral lipofuscin 4 7 0.7154548946771885 0.4743280026057819 |
| Symptomatic seizures 6 11 0.7151444848110735 0.4745197685130708 |
| Abnormal tricuspid valve morphology 7 17 0.7150983808703186 0.4745482543708135 |
| Slender long bone 12 27 -0.7149736095157506 0.4746253505180795 |
| Abnormal shape of the occiput 26 55 -0.7116281918185375 0.4766950447633005 |
| Pes planus 54 142 -0.7112700244585833 0.4769169230761008 |
| Dimple chin 4 4 -0.7102115430754931 0.4775729638194692 |
| Breech presentation 5 12 0.7100638915770772 0.4776645165974651 |
| Reduced subcutaneous adipose tissue 8 12 0.7095028223890355 0.4780125006531344 |
| Neuromuscular dysphagia 1 2 -0.7075989083883616 0.4791943709432882 |
| Decreased mean corpuscular volume 2 4 -0.7075976257815513 0.4791951676693038 |
| Limb dystonia 9 24 0.7075310884126612 0.4792365001527763 |
| Abnormal electrophysiology of sinoatrial node origin 7 23 0.7071020439423479 0.4795030658828407 |
| Malignant neoplasm of the central nervous system 14 40 0.7069666082604981 0.4795872289954526 |
| Cupped ribs 2 9 0.7055684631510808 0.4804565421356526 |
| Loss of consciousness 2 6 -0.7050701171728702 0.4807666020536882 |
| Nephrocalcinosis 17 36 0.7048420041528557 0.48090856531919 |
| Maturity onset diabetes of the young 2 3 0.7047185370391382 0.4809854130442377 |
| Abnormal circulating arginine concentration 1 3 -0.7042703125172092 0.481264450693905 |
| Abnormal corneal epithelium morphology 13 26 0.7034980285421512 0.4817454349306755 |
| Irregular vertebral endplates 3 7 0.7033189469202012 0.4818570056436353 |
| Knee clonus 1 3 -0.70328920593465 0.4818755361138302 |
| Hypoplastic fifth fingernail 6 9 0.7024309845283137 0.4824104279711616 |
| Hypoplasia of the olfactory bulb 0 2 0.7018021758057014 0.4828025416935249 |
| Premature graying of hair 6 15 0.7003289797785827 0.4837218776444807 |
| Hereditary nonpolyposis colorectal carcinoma 11 18 -0.6984991484008192 0.4848650902554665 |
| Abnormality of vitamin b12 metabolism 8 20 -0.6980295527882309 0.4851587124876566 |
| Tachycardia 16 39 0.697383644769759 0.4855627341502573 |
| Angiokeratoma 2 6 -0.6969763314244176 0.4858176061495065 |
| Renal steatosis 2 4 -0.6964561520060792 0.4861432081141896 |
| Congenital blindness 0 4 0.6960203451236125 0.4864160886247184 |
| Frontal cortical atrophy 8 31 -0.695739529777058 0.4865919650335151 |
| Increased c peptide level 1 3 0.6953876640234106 0.4868123892634006 |
| Photoreceptor layer loss on macular oct 2 4 -0.6945113348448958 0.4873615949467966 |
| Spastic ataxia 3 9 0.6942303878211834 0.4875377385030264 |
| Stereotypical hand wringing 3 6 0.6940403089348772 0.4876569305321609 |
| Painless fractures due to injury 3 3 -0.693796206649766 0.4878100218681531 |
| Pancreatic adenocarcinoma 6 16 0.6935769711190674 0.4879475398573483 |
| Aspiration 10 13 0.6931587902828665 0.4882099065448884 |
| Tracheoesophageal fistula 12 32 0.6929269290830472 0.4883554090581152 |
| Atresia of the external auditory canal 8 22 0.692925855220693 0.4883560830056457 |
| Alternating esotropia 1 5 0.6912891802396386 0.4893838298890609 |
| Echolalia 4 18 0.6901755673534044 0.4900837861687002 |
| Intestinal pseudo obstruction 4 16 0.6892146167373129 0.4906882198688047 |
| Abnormality of subcutaneous fat tissue 8 23 0.6885171353184054 0.4911271834332433 |
| Cervical spinal canal stenosis 1 3 0.6878364320700363 0.4915557908754704 |
| Frontal balding 3 6 -0.6873567061851555 0.4918579727256222 |
| Bradykinesia 13 41 0.6872758695032757 0.4919089019877902 |
| Decreased cd4 cd8 ratio 1 5 0.6871916169249545 0.4919619863671141 |
| Abnormality of the antihelix 7 21 -0.6836860403265954 0.494173440319734 |
| Peroneal muscle atrophy 3 7 -0.6832448092416727 0.494452162325474 |
| Phthisis bulbi 2 7 0.6826648091851132 0.4948186713722324 |
| Generalized hyperpigmentation 9 18 0.6821312547655151 0.4951559590381853 |
| Non motor seizure 19 76 -0.6820711646908094 0.4951939528119762 |
| Sudden death 16 43 0.6819432892724338 0.4952748111098888 |
| Abnormal blood monovalent inorganic cation concentration 10 32 0.6809917732472114 0.4958766959657772 |
| Abnormality of the glenoid fossa 1 3 -0.6809348848035629 0.4959126933163564 |
| Fetal akinesia sequence 4 8 0.6807987624261732 0.4959988332531677 |
| Synostosis of metacarpals metatarsals 1 4 0.6805787563192042 0.4961380727372397 |
| Agenesis of maxillary incisor 3 3 -0.6803027804726102 0.4963127643445757 |
| Torsade de pointes 3 3 -0.6803027804726102 0.4963127643445757 |
| Monocytosis 1 3 0.6801942681170324 0.4963814612162722 |
| Abnormal monocyte morphology 1 3 0.6801942681170324 0.4963814612162722 |
| Prelingual sensorineural hearing impairment 0 3 0.6797014251435702 0.4966935334614011 |
| Infertility 5 22 -0.6788507493513575 0.497232434371111 |
| Patchy palmoplantar hyperkeratosis 1 3 -0.6787412080713767 0.4973018511161275 |
| Tics 2 9 0.6785898996550401 0.4973977443500468 |
| Renal salt wasting 1 3 0.6779105167695539 0.4978284314452708 |
| Absent fingernail 3 16 0.6776399858430889 0.4979999867039166 |
| Retinal degeneration 24 98 -0.6773904732744456 0.4981582412031915 |
| Thyroid adenoma 2 7 0.677328975406274 0.4981972506194505 |
| Joint hyperflexibility 29 76 -0.676839252323313 0.4985079504552334 |
| Eeg with continuous slow activity 2 5 -0.6765819698138807 0.4986712220043139 |
| Lack of insight 2 5 -0.6765819698138807 0.4986712220043139 |
| Collectionism 2 5 -0.6765819698138807 0.4986712220043139 |
| Epistaxis 11 27 -0.6764130652343234 0.4987784243509399 |
| Large hands 10 24 -0.6758966050453934 0.4991062933605987 |
| Periventricular white matter hyperintensities 6 13 0.6758961584484602 0.4991065769272396 |
| Episodic vomiting 4 19 -0.675408606585698 0.4994161989403309 |
| Renal fibrosis 2 4 -0.6752020544207024 0.4995474015801888 |
| Avascular necrosis 15 33 0.6742026791060737 0.5001824665963077 |
| Decreased circulating iga level 6 18 -0.6740484496721777 0.5002805116723703 |
| Abnormal circulating copper concentration 4 8 0.6739845700168723 0.5003211235447438 |
| Neonatal onset 13 33 0.6730695505073592 0.5009030445244209 |
| Periauricular skin pits 5 17 -0.6728074175901073 0.5010698181299227 |
| Abnormal blistering of the skin 12 33 0.6727392167946258 0.5011132135066243 |
| Gynecomastia 17 29 0.6717745923009311 0.5017272060926239 |
| Weak voice 3 11 0.6716939564222495 0.5017785496197766 |
| Abnormal circulating proteinogenic amino acid derivative concentration 38 39 0.6710786956486495 0.5021703980233234 |
| Abnormality of the spinal cord 47 134 -0.670805637071057 0.5023443559192415 |
| Panniculitis 6 11 0.6702340263670291 0.502708616098253 |
| Abnormal glomerular basement membrane morphology 1 2 -0.667829153159561 0.5042426549994921 |
| Abnormalities of placenta or umbilical cord 9 29 -0.6670758413605625 0.5047236906736403 |
| Broad distal phalanx of finger 5 11 -0.6661457755475948 0.5053179281270102 |
| Decreased fertility in females 5 13 -0.6658630246436724 0.5054986562875619 |
| Impaired horizontal smooth pursuit 2 5 0.6658530022890295 0.505505062980802 |
| Female reproductive system neoplasm 15 34 0.6657687190377003 0.5055589419253279 |
| Pelvic kidney 6 12 0.665739026907287 0.5055779236485227 |
| Endocardial fibrosis 0 2 0.6652013362189251 0.5059217259631819 |
| Abnormal aortic arch morphology 5 22 -0.6648564361287723 0.5061423216856524 |
| Panhypopituitarism 2 4 -0.6641953452177969 0.5065652922857895 |
| Enlarged thorax 10 31 -0.6640546785641839 0.5066553157692608 |
| Centrocecal scotoma 2 7 -0.663562471404754 0.5069703834304615 |
| Bird like facies 5 9 0.6632809984522641 0.50715060387722 |
| Vocal cord paresis 1 5 0.6632662056304673 0.5071600763004669 |
| Muscle fiber inclusion bodies 5 14 0.6632597327533719 0.5071642211664518 |
| 4 5 toe syndactyly 1 2 -0.6624327157643426 0.507693942620846 |
| Facial shape deformation 2 6 0.6611215435370755 0.5085343703540897 |
| Neurofibromas 6 13 -0.6606373604745263 0.5088449035728622 |
| Aplasia hypoplasia involving the femoral head and neck 5 14 0.6597487923552819 0.5094150495863687 |
| Vaginal atresia 3 5 -0.6587847312754891 0.510034013483964 |
| Nuclear cataract 3 7 0.6582890996187939 0.5103523809375998 |
| Abnormal z disc morphology 0 3 0.6578093365836865 0.510660654186166 |
| Abnormality of the fifth metatarsal bone 1 2 -0.6567034970472277 0.5113715854193446 |
| Multiple impacted teeth 1 2 -0.6567034970472277 0.5113715854193446 |
| Metatarsal synostosis 1 2 -0.6567034970472202 0.5113715854193495 |
| Disturbance of facial expression 3 10 -0.6564605378614614 0.5115278502409759 |
| Vein of galen aneurysmal malformation 1 2 -0.6546839369449279 0.5126712693982705 |
| Abnormal cerebral vein morphology 1 2 -0.6546839369449279 0.5126712693982705 |
| Dysplastic corpus callosum 9 17 0.6545689575816999 0.5127453159087958 |
| Abnormal blood potassium concentration 6 20 0.6534334018495411 0.5134769110586688 |
| Fasting hyperinsulinemia 2 6 0.6527962203408586 0.5138876606316827 |
| Abnormal hair whorl 10 40 -0.6527190817123092 0.5139373984982432 |
| Abnormal heart rate variability 3 5 0.6523905220984236 0.5141492770103904 |
| Cerebral edema 5 14 0.652005887479053 0.5143973743673997 |
| Central primitive neuroectodermal tumor 4 5 0.6519341361832776 0.5144436623380022 |
| Talipes equinovalgus 3 5 -0.6516736292702826 0.5146117379405277 |
| Brain neoplasm 1 7 0.6516072521390915 0.5146545681465846 |
| Exostoses 2 7 0.6512529067895669 0.5148832427555039 |
| Recurrent pancreatitis 2 6 -0.6511997885643825 0.5149175268271393 |
| Hamstring contractures 1 2 -0.6506479071131256 0.5152737975763182 |
| Skin plaque 3 9 0.6505816015826266 0.5153166101645945 |
| Bloody diarrhea 6 12 -0.6505308881363341 0.5153493564005145 |
| Pheochromocytoma 5 14 0.6499401957034033 0.5157308526321296 |
| Hepatitis 11 27 0.6473462365453749 0.5174078833754876 |
| Supernumerary tooth 5 15 -0.6473307503392494 0.5174179038934295 |
| Short clavicles 5 14 0.647139812969142 0.5175414602475477 |
| Abnormality of the 1st metacarpal 4 14 0.6470360500860224 0.5176086120374286 |
| Hypoplastic female external genitalia 11 23 0.6470257454628254 0.5176152810833179 |
| Abnormality of chorioretinal pigmentation 3 6 0.6461453822100217 0.5181852072341311 |
| Oligohydramnios 17 61 -0.644445798051674 0.5192863945614961 |
| Abnormal circulating igg level 14 30 -0.6443186454688763 0.5193688272635493 |
| Hyperphosphatemia 1 4 0.6435083609016878 0.519894291344076 |
| Abnormal brain lactate level by mrs 6 18 0.6431360411860753 0.5201358300788139 |
| Abnormal corpus striatum morphology 14 25 0.6426843682670605 0.5204289260681687 |
| Abnormality of secondary sexual hair 6 12 0.6414460606499284 0.5212329151115715 |
| Broad jaw 1 2 -0.6408986500226712 0.5215885330172711 |
| Epidermal hyperkeratosis 1 3 -0.6395706615138426 0.5224517612097013 |
| Abnormal urinary color 4 8 0.6392302020015692 0.522673187199157 |
| Abnormal pleura morphology 9 39 -0.6382993701181512 0.523278821951012 |
| Episodic hyperhidrosis 6 14 0.6379543226081409 0.5235034144907798 |
| Astrocytosis 3 11 0.6377865404663183 0.5236126422969267 |
| Hyperostosis 11 22 0.6368561722434234 0.5242185331241158 |
| Abnormality of vitamin b metabolism 8 24 -0.6362922001292171 0.524585987843901 |
| Impaired tactile sensation 3 12 0.6362388759145646 0.5246207379375356 |
| Bilateral ptosis 7 25 0.6361869823984828 0.5246545568116725 |
| Respiratory arrest 4 10 0.6360958822953457 0.5247139292206169 |
| Alveolar ridge overgrowth 2 4 -0.6360519095044849 0.5247425887126944 |
| Spondyloepimetaphyseal dysplasia 4 11 0.6356304354333816 0.5250173272589187 |
| Temporal pattern 3 11 0.6353608915988833 0.5251930684319224 |
| Spinal deformities 2 9 -0.6350923566104784 0.5253681817733657 |
| Hypopigmented skin patches 18 48 -0.6349369824581778 0.5254695158679932 |
| Posterior pituitary dysgenesis 3 7 -0.6346742408376291 0.5256408971307271 |
| Uplifted earlobe 1 4 -0.6335017658868503 0.5264060280467593 |
| Thick cerebral cortex 3 8 -0.6333458291011685 0.5265078317517515 |
| Olivopontocerebellar hypoplasia 2 8 -0.6333397770924768 0.5265117830228583 |
| Pancreatitis 13 33 0.633199258917975 0.5266035296148681 |
| Areflexia of lower limbs 18 34 0.6330107063825275 0.526726651445443 |
| Abnormal response to acth stimulation test 2 4 -0.6325613659371391 0.5270201229039435 |
| Atlantoaxial abnormality 2 7 -0.6315622351557065 0.527672970195336 |
| Abnormal venous morphology 11 46 -0.6314598540840615 0.5277398908323865 |
| Butterfly vertebrae 3 7 -0.631337260084808 0.5278200291934922 |
| Ventricular tachycardia 5 21 0.6311609812637927 0.5279352716091783 |
| Preaxial polydactyly 13 29 -0.630954417523681 0.5280703291302762 |
| Abnormality of the radial head 8 18 -0.6307325961395246 0.5282153821549851 |
| Toe clinodactyly 11 44 -0.6306443727656733 0.5282730786601437 |
| Mucosal telangiectasiae 8 20 -0.6303651137109019 0.528455730238115 |
| Abnormal ileum morphology 9 28 -0.6295792034527804 0.528969933573844 |
| Progressive external ophthalmoplegia 5 21 -0.6295063827839161 0.529017591378639 |
| Carcinoid tumor 2 7 -0.6293617796767266 0.5291122339901255 |
| Abnormal urine sodium concentration 1 3 -0.6280804087544647 0.5299512663838246 |
| Apneic episodes precipitated by illness fatigue stress 1 3 -0.6277407383721045 0.5301737933930413 |
| Aplasia of metacarpal bones 3 4 -0.6275762865000966 0.5302815471934066 |
| Peripheral pulmonary artery stenosis 7 15 0.6263821729661131 0.5310642996593495 |
| Poor wound healing 4 8 0.6260569865726889 0.5312775638438083 |
| Increased intracranial pressure 12 30 0.625947291461736 0.5313495140361704 |
| Appendicular hypotonia 1 4 0.6258119768011476 0.5314382751701827 |
| Abnormal qrs complex 1 3 0.6256876269809415 0.531519850424826 |
| Elevated calcitonin 5 13 0.6253397088851629 0.5317481233754993 |
| Abnormal calcium phosphate regulating hormone level 6 16 0.6253226783300871 0.5317592985883195 |
| Megalencephaly 2 6 -0.6244441235945168 0.5323359553409781 |
| Localized hirsutism 4 8 -0.6238358279834915 0.5327354075972695 |
| Aplasia hypoplasia involving the pelvis 24 25 0.6233056927628443 0.5330836575583504 |
| Bulbous nose 21 79 -0.6229141922388415 0.5333409111913614 |
| Prolonged neonatal jaundice 12 30 0.6219221859119511 0.5339930359598744 |
| Confusion 14 27 0.6216847535815061 0.5341491788463304 |
| Acral ulceration 0 4 0.6212766886423127 0.5344175888903338 |
| Autoamputation of digits 0 4 0.6212766886423127 0.5344175888903338 |
| Reduction of neutrophil motility 2 5 0.621048529661325 0.5345676931059331 |
| Distal peripheral sensory neuropathy 3 9 -0.6202636712305932 0.5350842084482808 |
| Abnormality of refraction 76 266 -0.6201528440868517 0.5351571640623323 |
| Peripheral demyelination 10 29 0.6196335414423091 0.5354990789017724 |
| Solitary median maxillary central incisor 2 5 0.6192041593194241 0.5357818721441476 |
| Aplasia hypoplasia affecting the eye 63 180 -0.6190892412911712 0.5358575704972912 |
| Abnormal urinary electrolyte concentration 14 30 0.6188977729469861 0.5359837057361876 |
| Epigastric pain 1 3 -0.6166596487694975 0.5374592417821633 |
| Bone marrow hypercellularity 5 16 0.616449422302405 0.5375979432989422 |
| Arteriosclerosis 10 28 -0.6162438840047034 0.5377335690724987 |
| Abnormal response to endocrine stimulation test 2 5 0.6162085279400401 0.5377569007320426 |
| Thyroid carcinoma 7 29 0.6161403596756139 0.5378018867756762 |
| Short tibia 1 5 0.6160531360952036 0.5378594506827323 |
| Abnormality of the umbilical cord 5 15 -0.6159839575426952 0.5379051078272841 |
| Squared iliac bones 3 4 -0.6159246567580728 0.5379442472937457 |
| Sagittal craniosynostosis 2 9 0.6154896101252011 0.5382314287399459 |
| Hyperphosphaturia 4 9 -0.6150948813909672 0.5384920622252858 |
| Cloverleaf skull 1 4 -0.6149057496054546 0.5386169655458195 |
| Aplasia hypoplasia of the fibula 4 10 0.6142247064963512 0.5390668492131763 |
| Toxemia of pregnancy 3 9 -0.6138664292081807 0.5393035957014454 |
| Aplasia hypoplasia of the sternum 3 8 -0.6134683312970859 0.5395667163848663 |
| Congenital nystagmus 8 31 -0.610341133173997 0.541635854450385 |
| Progressive muscle weakness 8 27 -0.610102997854238 0.5417935809067467 |
| Anti thyroid peroxidase antibody positivity 1 3 -0.6099272900637042 0.5419099738307156 |
| Severe infection 10 11 0.6093402287449817 0.5422989473445996 |
| Aplasia hypoplasia involving bones of the thorax 27 68 -0.6083384287068504 0.5429630386551585 |
| Shield chest 2 8 -0.6083246798434682 0.5429721555672926 |
| Muscle fiber splitting 2 3 -0.6068268701175596 0.543965814045644 |
| Poor gross motor coordination 4 5 0.6067179996707305 0.5440380747784783 |
| Gingival fibromatosis 1 5 0.6051879771040592 0.5450541034393885 |
| Renal phosphate wasting 4 4 -0.6045454063083266 0.5454810905290077 |
| Ventricular preexcitation 3 13 -0.6043719705202494 0.5455963667219734 |
| Death in childhood 7 41 -0.6042669157101396 0.5456661985480902 |
| Multiple joint contractures 13 32 0.6041277871038033 0.5457586866638446 |
| Hypokalemia 5 12 0.6036064911795029 0.5461052961522943 |
| Abnormality of lower limb metaphyses 2 11 0.6031682093572605 0.5463967940017564 |
| Posterior embryotoxon 11 31 0.6027434844485796 0.5466793487840966 |
| Partial agenesis of the corpus callosum 8 24 -0.6019966603502146 0.5471763604311155 |
| Azoospermia 8 24 -0.6014545912003287 0.5475372475976155 |
| Abnormal dura mater morphology 2 4 -0.6009523803135836 0.547871703804407 |
| Hypoplasia of the odontoid process 3 11 0.5998519327464759 0.5486049191867821 |
| Biliary cirrhosis 4 9 0.5997863886157225 0.5486486057598401 |
| Abnormality of the tonsils 10 11 0.5994226105387593 0.5488911028882992 |
| Knee dislocation 2 4 -0.59709820443889 0.5504418166412544 |
| Ocular albinism 3 9 -0.5970425018757222 0.550479004722273 |
| Oroticaciduria 1 3 -0.5969997140446484 0.5505075715246359 |
| Scaphocephaly 3 9 -0.5969824100761834 0.5505191245270158 |
| Telecanthus 18 73 -0.596894498070415 0.5505778208607928 |
| Abnormal nasolacrimal system morphology 11 25 -0.5966735943487431 0.5507253255557059 |
| Synostosis involving bones of the hand 8 18 0.5965346369448955 0.5508181219561257 |
| Abnormal left ventricle morphology 21 52 -0.596509954395686 0.5508346058818399 |
| Abnormal 3rd finger morphology 1 4 0.5961201892448648 0.5510949377390939 |
| Abnormality of urine catecholamine concentration 5 14 0.5960647469306889 0.5511319736730007 |
| Hamartoma of the eye 5 16 0.5959475721238745 0.5512102514599371 |
| Pancreatic hypoplasia 3 8 0.5955033791425771 0.5515070410187453 |
| Recurrent abscess formation 2 4 -0.5946070206337826 0.5521061860760876 |
| Aplasia hypoplasia of the phalanges of the thumb 5 17 0.5944055544432632 0.552240894330515 |
| Cardiorespiratory arrest 4 5 0.5942075855556522 0.5523732798650554 |
| Oral aversion 8 12 0.5939731416222287 0.5525300770940043 |
| Hypoventilation 7 20 0.593451841658002 0.5528788032642684 |
| Synostosis involving bones of the lower limbs 2 7 0.5930184801058687 0.5531687847379838 |
| Hepatoblastoma 8 13 0.5919589973631286 0.5538780455044869 |
| Abnormality of the calcaneus 8 16 -0.5915387945775473 0.554159469575775 |
| Difficulty in tongue movements 1 4 0.5914492459466175 0.5542194523784583 |
| Elevated hemoglobin a1c 4 5 0.5912841334638839 0.5543300588190894 |
| Rapidly progressive 4 16 0.5910123086022471 0.5545121738460317 |
| Aortic arch aneurysm 5 12 0.5909578619795587 0.5545486550724399 |
| Renal duplication 5 11 0.5908951218731542 0.5545906946915815 |
| Frontal hirsutism 1 2 -0.5906054152071771 0.5547848356761351 |
| Paraganglioma 4 13 0.588332042509242 0.5563094421312444 |
| Palpitations 11 33 -0.5881025711705441 0.5564634474257519 |
| Subcutaneous hemorrhage 23 73 -0.5877229555456942 0.5567182648134668 |
| Hypoplastic labia minora 3 10 -0.5867793733734112 0.5573518915972726 |
| Clitoral hypoplasia 3 10 -0.5867793733734112 0.5573518915972726 |
| Abnormality of the curvature of the cornea 29 126 -0.5865124871915498 0.5575311725608172 |
| Amniotic constriction ring 2 3 -0.5861582794794868 0.5577691551583406 |
| Young adult onset 7 16 0.5859749406697269 0.5578923549637025 |
| Increased proteinogenic amino acid level in urine 9 17 0.5856764783402956 0.5580929436529376 |
| Polygenic inheritance 3 8 0.5855403852136711 0.5581844199083719 |
| Decreased circulating cortisol level 5 16 -0.5854627481619774 0.5582366076372562 |
| Esophageal stenosis 4 9 0.5850442589776116 0.5585179574714692 |
| Abnormal circulating tyrosine concentration 1 3 0.5845199276133942 0.5588705621189269 |
| Aplasia hypoplasia of the hallux 9 36 -0.5842064100285904 0.5590814494338874 |
| Micronodular cirrhosis 3 11 0.5836922064661277 0.5594274116149398 |
| Neonatal hyperbilirubinemia 2 4 0.5832834536929513 0.5597024993616055 |
| Insulin resistance 10 27 0.5826773486195087 0.5601105245557056 |
| Nodular goiter 3 3 -0.5822980186138542 0.5603659598806203 |
| Genetic anticipation 1 4 0.5819852313244974 0.5605766287542884 |
| Abnormal endocrine physiology 3 7 0.5799642049147664 0.5619387568173559 |
| Asymmetric septal hypertrophy 1 3 0.5787687673071917 0.5627452080608695 |
| Hyperactive patellar reflex 4 11 0.5786316053361726 0.5628377742726716 |
| Subependymal cysts 3 5 -0.578304985601808 0.563058229023536 |
| Recurrent acute respiratory tract infection 2 5 -0.5781216690169071 0.563181978349018 |
| Food allergy 3 5 0.5779852615109137 0.5632740698368293 |
| Hypocalciuria 1 2 0.5779269027989824 0.5633134712106063 |
| Hypermagnesemia 1 2 0.5779269027989824 0.5633134712106063 |
| Subcortical heterotopia 2 7 -0.5778086395804295 0.5633933216895275 |
| Thickened ribs 2 5 0.5775440116091862 0.563572016366525 |
| Basal cell carcinoma 7 25 -0.5770665926159515 0.5638944709929083 |
| Expressive aphasia 2 4 -0.5763183756294297 0.56440000461359 |
| Grammar specific speech disorder 2 4 -0.5763183756294297 0.56440000461359 |
| Senile plaques 2 4 -0.5763183756294297 0.56440000461359 |
| Alexia 2 4 -0.5763183756294297 0.56440000461359 |
| Abnormal cerebral vascular morphology 48 118 -0.5762975240396684 0.5644140961366293 |
| Reduced protein c activity 2 5 -0.5762749184623858 0.5644293731973067 |
| Overhanging nasal tip 3 3 -0.5757296418853267 0.5647979364966143 |
| Aplasia hypoplasia of the nasal bone 1 4 0.5752486146639909 0.5651231684512208 |
| Squamous cell carcinoma 8 24 0.5751734420553559 0.5651740022620833 |
| Enlarged kidney 5 12 -0.5751115837817048 0.5652158341974443 |
| Abnormal lacrimal duct morphology 6 14 -0.5750183407690799 0.5652788930158155 |
| Anasarca 3 4 -0.5728938164302826 0.5667165916549894 |
| Obsessive compulsive trait 4 6 0.5726695979427013 0.5668684260121886 |
| Increased sulfur amino acid level in urine 5 10 -0.5724759506842826 0.5669995740970855 |
| Prominent occiput 9 26 -0.5724510147863363 0.5670164630524175 |
| Widened cerebral subarachnoid space 2 7 -0.5710808122473997 0.5679448645721228 |
| Restrictive behavior 3 8 0.570013241938469 0.568668716799966 |
| Facial hypotonia 5 19 -0.5699399627088461 0.5687184189996386 |
| Spoken word recognition deficit 1 5 0.5698353255611049 0.5687893935461616 |
| Abnormal posterior segment imaging 6 10 -0.569411504561024 0.5690769112455061 |
| Primitive reflex 4 11 0.5689137434753014 0.5694146780765517 |
| Typical absence seizure 5 21 -0.5688988689643663 0.5694247729783837 |
| Abnormal left ventricular outflow tract morphology 3 6 0.5679328779387696 0.5700805460897755 |
| Neoplasm of the peripheral nervous system 10 31 -0.5672980069234269 0.5705117309221293 |
| Increased vertebral height 6 6 -0.5672484038597494 0.5705454263380503 |
| Abnormal aortic valve morphology 22 70 -0.5665312124862965 0.5710327211577004 |
| Carpal bone hypoplasia 3 8 0.5656975703265456 0.5715993871893954 |
| Subcapsular cataract 6 14 -0.5644783686611334 0.5724286175128994 |
| Paranoia 7 8 0.5637446711661356 0.5729279112330512 |
| Large basal ganglia 7 29 -0.5620217917422041 0.5741011719047866 |
| Abnormal epiphyseal ossification 11 27 0.5619943962685592 0.5741198370875256 |
| Ulnar deviation of the hand or of fingers of the hand 7 18 0.561780532375517 0.5742655574826441 |
| Perimembranous ventricular septal defect 4 9 0.5615297700589763 0.5744364416487129 |
| Low back pain 1 3 0.5614196505998674 0.5745114911182756 |
| Abnormal cry 8 19 0.5612385610121263 0.5746349187902671 |
| Decreased circulating total iga 1 2 -0.5608882884313823 0.5748736943939272 |
| Pulverulent cataract 0 2 0.5608095931336595 0.574927346261793 |
| Multiple rib fractures 0 2 0.5607485977661207 0.5749689325278378 |
| Supravalvular aortic stenosis 4 11 0.560351542308861 0.5752396772559052 |
| Prominent metopic ridge 10 19 0.5600921471985472 0.5754165864917973 |
| Anemic pallor 3 3 -0.5598330689675457 0.5755933052709117 |
| Partial absence of thumb 3 3 -0.5598330689675457 0.5755933052709117 |
| Aplasia of the proximal phalanges of the hand 3 3 -0.5598330689675457 0.5755933052709117 |
| Increased adipose tissue 2 5 0.5594005429884465 0.5758883908901937 |
| Abnormality of bladder morphology 7 16 0.559352981715401 0.5759208433519967 |
| Oral mucosal blisters 0 2 0.5590368788047652 0.5761365516422021 |
| Blistering by histological location 0 2 0.5590368788047652 0.5761365516422021 |
| Hypoplastic dermoepidermal hemidesmosomes 0 2 0.5590368788047652 0.5761365516422021 |
| Abnormal oral frenulum morphology 7 24 -0.5586160767218914 0.5764237656866797 |
| Mild global developmental delay 7 26 0.558400932073996 0.5765706364962795 |
| Lymphedema 11 27 -0.5583209948499555 0.5766252109990555 |
| Naevus flammeus of the eyelid 0 2 0.5573844652464554 0.5772647770622563 |
| Vertebral clefting 5 12 0.5566949968353149 0.5777358358423568 |
| Wrist flexion contracture 3 8 0.5560933835146463 0.5781470179924828 |
| Renal hamartoma 0 4 0.5559286807422603 0.5782596107037752 |
| Vertebral fusion 8 18 0.5549337746467383 0.5789399591248172 |
| Abnormal respiratory motile cilium morphology 1 3 -0.5548897723441966 0.5789700579780412 |
| Hypoplasia of the musculature 3 8 0.5547863067158553 0.5790408343691533 |
| Broad philtrum 6 20 -0.554571267178326 0.5791879466741086 |
| Ectopic kidney 9 29 -0.5536971830291924 0.5797861034622271 |
| Selective tooth agenesis 2 10 0.5534388248263985 0.5799629596462881 |
| Cardiovascular calcification 6 14 0.5531837486737226 0.5801375939499263 |
| Recurrent hand flapping 2 5 0.5522964004321962 0.5807452963817559 |
| Short lingual frenulum 2 6 0.5520211880820413 0.5809338367162684 |
| Abnormal b cell subset distribution 1 5 0.5518973654864467 0.581018673480203 |
| Abnormality of the pubic hair 5 9 0.5517434109111494 0.5811241631856605 |
| Abnormal labia minora morphology 4 13 -0.5514318396723771 0.5813376792768361 |
| Autoimmune antibody positivity 7 18 -0.5510632162619641 0.5815903399257656 |
| Neoplasm of the respiratory system 5 27 0.5508479171083095 0.5817379333118058 |
| Abnormal size of the clitoris 13 33 -0.5504809925797562 0.5819895103242505 |
| Flattened femoral head 2 3 -0.5500536366443615 0.5822825854041662 |
| Clonic seizure 5 13 -0.5488399888390808 0.5831152646617097 |
| Pierre robin sequence 3 10 0.5488165939521452 0.583131321260298 |
| Personality changes 5 27 0.5483800681682675 0.5834309595422971 |
| Metaphyseal widening 16 40 -0.5473121410175209 0.5841643041635822 |
| Nephronophthisis 8 12 -0.546448425605581 0.5847577304077465 |
| Hemangioblastoma 5 11 0.5454745431010772 0.5854271843127359 |
| Eeg with irregular generalized spike and wave complexes 2 5 -0.5451372433391466 0.5856591295787994 |
| Cranial hyperostosis 9 19 0.5450539302894458 0.5857164266348025 |
| Opsoclonus 1 3 0.5447570436369681 0.5859206262608414 |
| Bone spicule pigmentation of the retina 3 12 -0.5447080937831421 0.5859542973050043 |
| Poikilocytosis 4 22 0.5447039161552923 0.5859571710036213 |
| Male reproductive system neoplasm 9 24 0.5443705767844056 0.5861864889242652 |
| Premature arteriosclerosis 3 5 -0.5442470448993019 0.5862714821798984 |
| Abnormality of krebs cycle metabolism 5 10 -0.5436238038522743 0.5867003758874727 |
| Hyperthyroidism 5 15 0.5430086665274093 0.5871238353993289 |
| Long nose 11 18 -0.5426133746018315 0.5873960283751773 |
| Underdeveloped tragus 1 3 -0.541661312430245 0.5880518458495996 |
| Abnormal urine phosphate concentration 5 10 -0.541600505143604 0.5880937437725633 |
| Childhood onset 17 63 -0.5413514612864064 0.5882653563603233 |
| Burkitt lymphoma 1 4 -0.5407589622898024 0.5886737320037185 |
| Erythroderma 3 15 0.5404631370736207 0.5888776763787609 |
| Progressive hearing impairment 8 22 0.53994865891969 0.5892324395796038 |
| Abnormal duodenum morphology 9 28 -0.5391806897878372 0.5897621831979145 |
| Multifocal cerebral white matter abnormalities 4 7 0.5389749894401956 0.5899041121612489 |
| Aplasia hypoplasia of the eyebrow 12 73 -0.538733271833001 0.5900709123949386 |
| Oligospermia 0 3 0.5379546559208503 0.5906083536115283 |
| Cerebral hypoplasia 10 24 0.5372984309647978 0.5910614890833021 |
| Unexplained fevers 4 8 0.5368032992679377 0.5914034924583829 |
| Accelerated skeletal maturation 5 18 0.5365192513140861 0.5915997345499808 |
| Cheilitis 5 6 0.5363430177721191 0.5917215052202391 |
| Irregular epiphyses 2 8 0.5358058214227961 0.5920927584597333 |
| Trichorrhexis nodosa 2 4 0.5346092376351992 0.592920094531542 |
| Numerous nevi 1 2 -0.5337922294489403 0.5934852905070618 |
| Chronic noninfectious lymphadenopathy 1 6 -0.5334787917008378 0.593702188244206 |
| Abnormal metacarpal morphology 24 56 -0.5333866399964933 0.593765963775529 |
| Premature coronary artery atherosclerosis 2 4 -0.5333476548421545 0.5937929452177899 |
| Aortic atherosclerotic lesion 2 4 -0.5333476548421545 0.5937929452177899 |
| Precocious atherosclerosis 2 4 -0.5333476548421545 0.5937929452177899 |
| Abnormal foramen magnum morphology 2 7 0.5328411063920954 0.5941435760135987 |
| Deviation of the 3rd finger 1 2 -0.5328208842982207 0.594157575630645 |
| Arteria lusoria 1 2 -0.5328208842982075 0.5941575756306541 |
| Brushfield spots 5 9 -0.5326315707268288 0.5942886434347256 |
| Decreased number of peripheral myelinated nerve fibers 14 24 0.5326259311542967 0.5942925480928241 |
| Gingival bleeding 8 17 0.5317297411368321 0.5949131901152374 |
| Psychotic mentation 3 10 -0.5314650152434542 0.5950965784009803 |
| Deformed tarsal bones 1 4 -0.5314272219264831 0.5951227617440038 |
| Retinal hemorrhage 4 9 0.5309125176078844 0.595479403046334 |
| Progressive sensorineural hearing impairment 6 16 0.5307536623643798 0.595589494358409 |
| Impaired visuospatial constructive cognition 4 14 -0.530473547290209 0.5957836448802727 |
| Abnormality of the testis size 21 55 -0.5302691982963434 0.5959252993861888 |
| Right ventricular dilatation 2 4 -0.5298131286985961 0.5962415017018419 |
| Retinal pigment epithelial atrophy 3 6 0.5297175470296639 0.5963077801013332 |
| Pineal cyst 2 6 0.5290231420320991 0.5967893962921975 |
| Abnormal pineal morphology 2 6 0.5290231420320991 0.5967893962921975 |
| Abnormal morphology of myocardial trabeculae 5 9 -0.5289733810314383 0.596823915662513 |
| Anhidrosis 4 7 0.5280097478259415 0.5974925702951353 |
| Herpes simplex encephalitis 1 3 -0.5279138991272099 0.5975590972829319 |
| Agenesis of lateral incisor 4 4 -0.5279043450418408 0.5975657287992067 |
| Undetectable electroretinogram 2 7 -0.5279021776151577 0.5975672332205342 |
| Pancreatic islet cell hyperplasia 2 4 0.5277760341198983 0.5976547929949447 |
| Dialeptic seizure 22 91 -0.5277049350409042 0.5977041474492224 |
| Conjunctival hamartoma 3 5 -0.526791756055742 0.5983382084182116 |
| Cutaneous abscess 2 6 -0.5267677977658769 0.5983548478381744 |
| Decreased circulating igg subclass level 0 3 0.5259998789579362 0.598888291074094 |
| Ankyloblepharon 10 10 -0.5258758587702058 0.5989744632794984 |
| Abnormal caudate nucleus morphology 15 16 0.5253306807304178 0.5993533327192659 |
| Decreased circulating copper concentration 1 4 0.5244404502832662 0.5999722282909539 |
| Iron accumulation in brain 1 5 0.5233614261462703 0.6007227622138287 |
| Short phalanx of the thumb 4 13 0.5226084843002138 0.6012467351286142 |
| Abnormality of the spinocerebellar tracts 5 5 -0.5218803542891718 0.6017536376063055 |
| Viral encephalitis 2 5 -0.5218765601436034 0.6017562794824463 |
| Fragile nails 8 15 0.52154790762019 0.6019851411729262 |
| Metaphyseal sclerosis 3 7 0.5214450393978204 0.6020567829323213 |
| Aplasia hypoplasia of the 5th finger 7 25 -0.5207244687383212 0.6025587263762531 |
| Abnormality of tibia morphology 11 26 -0.5205933280659784 0.6026500981294145 |
| Albinism 2 5 -0.5204211700588238 0.6027700580209436 |
| Proximal femoral epiphysiolysis 2 6 0.5203139560919553 0.6028447702639785 |
| Anteriorly placed anus 8 18 0.519436491797414 0.6034563894013549 |
| Neonatal alloimmune thrombocytopenia 4 7 -0.5193836977278572 0.6034931973600031 |
| Hydrocele testis 7 13 -0.5187413044929357 0.6039411539482105 |
| Varicose veins 3 9 0.5181236991190801 0.604371966123157 |
| Infantile axial hypotonia 6 16 0.5174877617391956 0.6048157099134481 |
| Eyelid coloboma 8 15 0.5173695937917038 0.6048981811285852 |
| Bifid scrotum 4 11 -0.5172492660433873 0.6049821648829297 |
| Hyperuricemia 3 12 0.5172196628121462 0.6050028275060271 |
| Reduced antithrombin iii activity 4 9 -0.5171119096830203 0.6050780402881042 |
| Decreased lacrimation 6 9 0.5170806630223596 0.6050998515595345 |
| Ecchymosis 9 20 0.516311458188652 0.6056368947484321 |
| Abnormal peristalsis 5 9 0.5161968121518411 0.6057169565552734 |
| Ulnar claw 5 5 -0.5153796267529941 0.6062877662550497 |
| Episodic hypertension 1 3 -0.5144786068111987 0.606917413677087 |
| Epiphyseal stippling 8 20 0.5138985075192138 0.6073229510291249 |
| Aortic dissection 4 8 -0.5127954688071878 0.6080943997174075 |
| Blue nevus 0 2 0.5118589490771175 0.6087497301760592 |
| Abnormal pelvis bone ossification 1 4 -0.511140087738287 0.609252967179587 |
| Broad columella 2 8 -0.5110402508073136 0.6093228723930593 |
| Hip subluxation 5 11 0.5108286037451529 0.6094710781766546 |
| Sound sensitivity 6 13 0.5097929722396103 0.6101965097374646 |
| Abnormality of the tragus 2 4 0.5092015526166601 0.6106109549106788 |
| Aplasia hypoplasia of the tragus 2 4 0.5092015526166601 0.6106109549106788 |
| Arthropathy 4 8 0.5088875929186343 0.6108310170775704 |
| Chronic axonal neuropathy 3 4 0.5078212319733575 0.6115787184422152 |
| Peripheral cyanosis 6 11 0.507283369219977 0.6119560059028173 |
| Thick hair 5 10 0.5072264059654709 0.6119959691930652 |
| Thick nasal alae 10 20 0.5070607803445459 0.612112172497348 |
| Nasolacrimal duct obstruction 5 11 -0.5070187651675437 0.6121416519910217 |
| Raynaud phenomenon 5 9 0.5064400173564875 0.6125477880086154 |
| Pseudoarthrosis 1 5 0.5063993293734449 0.6125763452629593 |
| Hypophosphatemic rickets 2 4 -0.5050133300602976 0.613549473458145 |
| Underdeveloped nasal alae 19 44 -0.5042931367218361 0.6140553996991343 |
| Hypoplastic labia majora 8 17 0.5041604361060812 0.6141486401735501 |
| Generalized hyperreflexia 1 7 0.5036702092659828 0.6144931461838079 |
| Abnormal conus terminalis morphology 4 12 0.5035928879562052 0.6145474913609552 |
| Shortening of all distal phalanges of the fingers 6 20 -0.5034504922368978 0.6146475795350077 |
| Erythematous papule 2 2 -0.5022672674067629 0.6154795308920491 |
| Abnormal thyroid hormone level 2 4 -0.5019932190516383 0.615672290878948 |
| Cervical ribs 2 4 0.5018112751664434 0.615800281121369 |
| Retinal neovascularization 0 2 0.5013065536190686 0.6161553936967568 |
| Vitreoretinopathy 0 2 0.5013065536190686 0.6161553936967568 |
| Limb pain 8 13 0.5011773425373647 0.6162463186303886 |
| Restrictive ventilatory defect 6 22 -0.500105516790256 0.6170007818055072 |
| Obstructive sleep apnea 5 17 -0.4995390130789334 0.6173997098738633 |
| Fat malabsorption 5 13 0.4991433038314258 0.6176784326250229 |
| Increased mean corpuscular hemoglobin concentration 2 4 0.4990874030746399 0.617717811460349 |
| Concave nail 2 4 0.4990874030746399 0.617717811460349 |
| Tiger tail banding 2 4 0.4990874030746399 0.617717811460349 |
| Vitiligo 4 11 0.4989560997496619 0.6178103113449658 |
| Agenesis of cerebellar vermis 1 5 -0.4984454348330482 0.6181701195213902 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 2 8 -0.4983362695879252 0.6182470478868971 |
| Fatigable weakness of skeletal muscles 5 11 0.4975249440275807 0.6188189172541974 |
| Increased intramyocellular lipid droplets 2 10 0.4966162261311397 0.6194597085031597 |
| Supraventricular arrhythmia 13 32 -0.4965944511008479 0.6194750669273401 |
| Arrhinencephaly 6 18 0.4962679671852105 0.6197053633690024 |
| Autoimmune thrombocytopenia 5 15 -0.496151857803386 0.6197872740339792 |
| Teratoma 4 5 0.4955314340407553 0.6202250388861519 |
| Mild hearing impairment 8 18 0.4934027709053896 0.6217280248826582 |
| Aplasia hypoplasia of the epiglottis 1 3 0.4933398184557266 0.6217724978133126 |
| Polycythemia 1 3 0.4930092297517686 0.6220060657781663 |
| Loss of ability to walk 5 23 0.4926151679823825 0.6222845285517533 |
| Hamartoma 12 35 -0.4926099974191252 0.6222881826768718 |
| Radial deviation of the hand or of fingers of the hand 20 21 0.4925764575768198 0.6223118860806729 |
| Esodeviation 27 69 -0.4922928797309612 0.6225123129357117 |
| Abnormality of blood volume homeostasis 3 7 -0.4920745380386978 0.6226666513174013 |
| Visual loss 20 89 -0.4920706326448459 0.6226694120596363 |
| Oculogyric crisis 8 16 0.4919463596105942 0.6227572640526442 |
| Recurrent sinopulmonary infections 5 13 -0.4916130260831305 0.622992933124578 |
| Head banging 3 5 -0.491606346926118 0.6229976557287995 |
| Spastic dysarthria 5 14 -0.4913496352939583 0.6231791795222434 |
| Hyperkalemia 2 8 0.4902410849968552 0.6239633112040734 |
| Astrocytoma 3 16 0.4895366390601554 0.6244618217136138 |
| Increased endomysial connective tissue 1 2 0.4892502364733678 0.6246645474763854 |
| Hyperesthesia 1 3 0.4892082481627449 0.62469427065846 |
| Lacticaciduria 3 10 -0.4857152202543963 0.6271690908517344 |
| Depletion of mitochondrial dna in muscle tissue 2 7 0.4855072673630797 0.6273165588329803 |
| Aplasia hypoplasia of the tibia 1 7 0.4854920369301286 0.6273273599470699 |
| Capitate hamate fusion 1 4 0.4852009103213848 0.6275338363840115 |
| Corneal neovascularization 3 8 0.4850047873320317 0.6276729496157447 |
| Patellar subluxation 0 2 0.4848855631291096 0.6277575237530346 |
| Hypoplasia of the epiglottis 1 2 -0.4847303831957366 0.6278676111496788 |
| Decreased palmar creases 3 3 -0.4843683484558699 0.6281244772074168 |
| Abnormal globus pallidus morphology 8 13 0.4834021330103208 0.6288102339706672 |
| Increased serum iron 2 4 0.4831142844673738 0.629014592070404 |
| Coronal craniosynostosis 5 12 -0.4820877803506278 0.629743590065909 |
| Tracheomalacia 7 17 0.4817389969634701 0.6299913696181787 |
| Central hypoventilation 5 9 0.4817110087998446 0.6300112545221863 |
| Decreased absent ankle reflexes 11 22 0.4814342745540851 0.6302078818468968 |
| External ophthalmoplegia 16 35 -0.4809787672110218 0.6305315894407824 |
| Profound hearing impairment 4 7 0.4805965434985022 0.6308032725452437 |
| Osteopetrosis 2 5 -0.4805622036068483 0.6308276836485063 |
| Hypopigmentation of the fundus 2 5 0.4794592845821004 0.6316119267526006 |
| Alacrima 5 7 0.479430235211309 0.6316325882477838 |
| Abnormal sarcomere morphology 2 4 -0.4789764708307553 0.6319553675425498 |
| Oral ulcer 12 13 0.4773967253953675 0.6330796455663907 |
| Embryonal renal neoplasm 7 16 0.477163981890476 0.633245356911101 |
| Abnormal nasal base 10 16 0.4767566358503418 0.6335354280268286 |
| Flared iliac wing 3 10 -0.4766335505208711 0.6336230881755287 |
| Multiple lentigines 3 9 -0.4759289313679684 0.634125009894547 |
| Recurrent gastroenteritis 3 6 -0.4745988417477778 0.635072931981298 |
| Hypoplasia of teeth 16 38 -0.4737920958813159 0.6356481715885369 |
| Cortical myoclonus 1 4 -0.4737139087617574 0.6357039335875441 |
| Alopecia totalis 3 9 0.4736804775775048 0.6357277768875709 |
| Congenital ichthyosiform erythroderma 4 8 0.4727936216504375 0.6363604250937791 |
| Gingival overgrowth 17 49 -0.4725917373080194 0.636504478546847 |
| Recurrent pharyngitis 5 5 -0.4721043359210959 0.6368523177428602 |
| Calcification of the aorta 5 10 -0.4719819158407625 0.6369396967186534 |
| Elevated circulating follicle stimulating hormone level 2 6 0.4719268659119923 0.6369789909900783 |
| Abnormality of the metaphysis 38 99 -0.4710499744890483 0.6376050478120312 |
| Abnormal morphology of the musculature of the neck 5 22 0.4699596458565599 0.638383848882546 |
| Rhizomelia 8 22 -0.4697310021602537 0.6385472153938028 |
| Poor fine motor coordination 3 14 -0.4691474218110665 0.6389642645910225 |
| Aplasia hypoplasia involving bones of the lower limbs 61 166 -0.4688740844915429 0.6391596413392471 |
| Squamous cell carcinoma of the skin 3 6 0.4680263590264779 0.6397657399265757 |
| Patchy alopecia 1 5 0.46735890130815 0.6402431216738846 |
| Retrocollis 2 5 -0.4671351094558609 0.64040321631586 |
| Thin nail 1 5 0.4669866959292062 0.6405093965720317 |
| Stroke like episode 7 12 -0.4669132345860016 0.6405619561233311 |
| Hiatus hernia 8 14 0.4664691310939107 0.6408797382260765 |
| Increased muscle lipid content 5 14 0.4662167241086623 0.6410603795786072 |
| Palmoplantar hyperhidrosis 2 2 -0.4661304706415567 0.6411221138969379 |
| Palmar hyperhidrosis 2 2 -0.4661304706415567 0.6411221138969379 |
| Severe cytomegalovirus infection 0 4 0.4659925067808842 0.6412208641298893 |
| Colitis 6 16 0.4659369580674344 0.6412606259610836 |
| Equinovarus deformity 2 8 0.4657587322232953 0.6413882071671606 |
| Palmoplantar cutis laxa 1 3 -0.4655226491960194 0.6415572211707152 |
| Decreased serum complement c3 2 4 -0.4645207397931082 0.64227470390792 |
| Adenocarcinoma of the small intestine 4 6 -0.4643974525644234 0.6423630148788915 |
| Lateral clavicle hook 3 8 -0.4636762426790129 0.6428797207151584 |
| Acromesomelia 1 2 0.4633365246015629 0.6431231692707227 |
| Alveolar cell carcinoma 2 3 -0.4624444169985213 0.6437626532596461 |
| Atopic dermatitis 3 6 0.4619029281632238 0.6441509340770604 |
| Severe viral infection 7 8 0.4618918565778191 0.6441588740986917 |
| Mixed demyelinating and axonal polyneuropathy 2 8 -0.4618917116055067 0.6441589780663022 |
| Neuronal loss in central nervous system 7 20 0.4614126970301848 0.644502543741154 |
| Abnormal right atrium morphology 1 4 -0.4608546540356178 0.6449028870753313 |
| Abnormal circulating nucleobase concentration 3 18 0.4601265848280078 0.6454253630147067 |
| Antineutrophil antibody positivity 1 5 0.4589785845769092 0.6462495447932373 |
| Hypointensity of cerebral white matter on mri 5 10 0.4584316103891571 0.6466423858391948 |
| White hair 2 9 -0.4583775292700589 0.6466812326660769 |
| Dilated cardiomyopathy 28 73 -0.4581721470198685 0.6468287688721068 |
| Abnormal pancreas morphology 11 32 -0.4576653278597521 0.6471929014796207 |
| Low molecular weight proteinuria 3 3 -0.4573218111323107 0.6474397547882322 |
| Premature pubarche 2 3 -0.4562306633193719 0.6482241176939607 |
| Medullary nephrocalcinosis 3 4 -0.4560411163604644 0.6483604118509803 |
| Generalized limb muscle atrophy 3 12 0.4550667315282216 0.6490612312761319 |
| Prominent nasolabial fold 4 8 0.4547512375436349 0.6492882147397825 |
| Aplasia hypoplasia involving the sinuses 3 7 0.4547291545639307 0.6493041036514582 |
| Abnormality of amino acid metabolism 1 4 -0.4544653634118722 0.6494939162022693 |
| Disseminated intravascular coagulation 5 14 -0.4542572174968133 0.6496437049425514 |
| Choanal stenosis 2 6 0.4536809734102299 0.6500584632666055 |
| Antiphospholipid antibody positivity 1 4 0.4527721739963957 0.6507128024587514 |
| Bilateral cleft lip 2 5 -0.4527193634497254 0.6507508345458222 |
| Limited elbow extension 18 19 0.4514364564910457 0.6516750130301752 |
| Chorioretinal degeneration 3 9 -0.4512536698918639 0.6518067321546885 |
| Focal impaired awareness seizure 10 38 -0.4499120527668777 0.6527738565282619 |
| Aplasia hypoplasia of the radius 18 34 -0.4490916567521007 0.6533655388278845 |
| Congenital sensorineural hearing impairment 4 10 0.447514398408293 0.6545036942220508 |
| No social interaction 2 3 -0.4474960807521017 0.6545169170349989 |
| Abnormal circulating ige level 2 10 -0.4471395545640242 0.6547743011871008 |
| Mitochondrial inheritance 3 9 -0.4470628793731615 0.6548296600680641 |
| Generalized joint laxity 6 20 -0.4470158353272346 0.6548636264362484 |
| Myositis 8 13 0.4458110907296758 0.6557337097588531 |
| Abnormal proportion of cd8 positive t cells 6 7 0.4457205938490343 0.6557990867537156 |
| Urinary retention 2 8 0.4454998805542929 0.6559585460915316 |
| Combined immunodeficiency 8 16 -0.4452892524809991 0.6561107337536054 |
| Subdural hemorrhage 0 2 0.4450263578449674 0.6563007062370603 |
| Pulmonary infiltrates 3 13 0.4424961265838154 0.6581302326071903 |
| Peripheral hypomyelination 1 4 0.4423922176886815 0.6582054095619374 |
| Microdontia 18 48 -0.4419558456197445 0.6585211577278032 |
| Gangrene 7 17 0.4412488815537725 0.6590328288838607 |
| Flexion contracture of digit 29 128 -0.440557703608574 0.6595332290364901 |
| Morphological abnormality of the middle ear 1 8 0.4398771917465152 0.6600260560290121 |
| Milia 3 6 -0.4398421599559923 0.6600514300620557 |
| Epicanthus inversus 1 4 0.438994195981382 0.6606657418564612 |
| Somatic mosaicism 4 4 -0.4386404205281184 0.6609221039126187 |
| Frontotemporal dementia 6 19 -0.4377943859175467 0.6615353410121128 |
| Lymphoproliferative disorder 2 7 0.4377009477155161 0.6616030824053152 |
| Stroke 23 56 -0.4372110602563926 0.6619582893104372 |
| Nonprogressive 4 9 0.4368606769692751 0.6622123914039773 |
| Type 2 muscle fiber atrophy 2 6 0.4367192290929508 0.6623149820951353 |
| Bifid ribs 2 6 -0.4363602090169294 0.66257540412031 |
| Sloping forehead 30 89 -0.4362043558275676 0.6626884678909939 |
| Aplasia hypoplasia of the 4th metacarpal 2 4 0.4354984791689544 0.6632006426634203 |
| Narrow pelvis bone 2 3 -0.434952603527424 0.6635968307990499 |
| Broad neck 9 18 0.4344060369813817 0.6639936146393075 |
| Hypouricemia 6 7 0.4343486042397699 0.664035313815414 |
| Methylmalonic aciduria 6 14 -0.4332238778077206 0.6648521335820656 |
| Aortic root aneurysm 13 42 -0.4321689664314876 0.6656186127744101 |
| Protruding tongue 5 19 0.4320508007042321 0.6657044915983366 |
| Increased skull ossification 2 4 -0.4318278492995015 0.6658665370217118 |
| Tongue thrusting 1 4 0.4316877557299596 0.6659683677389765 |
| Abnormal lateral ventricle morphology 13 55 -0.4316145460845142 0.6660215845567419 |
| Small intestinal dysmotility 0 3 0.4314718563968552 0.6661253119392463 |
| Intestinal fistula 6 11 -0.4310393460439126 0.6664397616646542 |
| Moderate sensorineural hearing impairment 5 15 0.4309609364622703 0.6664967743744004 |
| Cerebellar vermis atrophy 5 18 0.4308674670561622 0.6665647398114836 |
| Lop ear 3 3 -0.4297300454976637 0.6673920248344227 |
| Abnormal lumbar spine morphology 5 15 0.4293649426901743 0.6676576622013031 |
| Spinocerebellar tract degeneration 4 4 -0.429299623029472 0.6677051911331129 |
| B cell lymphoma 7 8 0.4291782560125174 0.6677935056736422 |
| Reduced brain n acetyl aspartate level by mrs 2 4 0.4281052970092005 0.668574460460083 |
| Abnormal brain n acetyl aspartate level by mrs 2 4 0.4281052970092005 0.668574460460083 |
| Recurrent herpes 2 7 -0.4279995581239188 0.6686514420972671 |
| Septate vagina 1 4 -0.4279268592434632 0.6687043714669922 |
| Increased circulating igg level 1 5 0.427514365308933 0.6690047242364365 |
| Urethral valve 3 4 0.4266785960269262 0.6696134424871767 |
| Congenital posterior urethral valve 3 4 0.4266785960269262 0.6696134424871767 |
| Impaired distal tactile sensation 4 5 0.4265903236698246 0.6696777468299313 |
| Pustule 4 6 -0.4253411088378824 0.6705880299726048 |
| Pelvic girdle muscle weakness 5 14 0.4251202222594445 0.6707490369072304 |
| Multiple lipomas 13 13 -0.424345512938399 0.6713138514937456 |
| Severe combined immunodeficiency 3 10 0.4241293719319654 0.6714714657992447 |
| Cerebral venous thrombosis 1 3 0.4241110948091875 0.6714847945020768 |
| Increased hepatic glycogen content 2 6 0.4235790513766718 0.6718728356715031 |
| Chronic infection 6 14 0.423545059684885 0.671897630184422 |
| Chromosome breakage 17 18 0.4234721575600046 0.6719508082847088 |
| Retinal thinning 1 3 0.4233052176138525 0.6720725879999507 |
| Abnormality of the common coagulation pathway 7 25 -0.4231637037523856 0.6721758265794449 |
| Conjugated hyperbilirubinemia 1 6 -0.4230242715864266 0.6722775525467597 |
| Meningocele 4 17 0.4229076681000902 0.6723626279290977 |
| Rib fusion 6 15 0.4218083126924761 0.6731649376860418 |
| Bruxism 5 11 0.4216176563029921 0.6733041166374634 |
| Arterial thrombosis 8 9 0.421547015226392 0.6733556873853908 |
| Abnormality of the knee 33 155 -0.4213479993071682 0.6735009850449689 |
| Male pseudohermaphroditism 5 9 -0.421217081904939 0.673596571943333 |
| Abnormal circulating long chain fatty acid concentration 6 11 -0.4207236506150005 0.6739568889555461 |
| Prominent eyelashes 7 11 0.4204716724054976 0.6741409191900911 |
| Anarthria 4 11 0.4197638911855264 0.6746579457206099 |
| Deviation of the hand or of fingers of the hand 66 199 -0.4191531089793956 0.6751042390204092 |
| Slow decrease in visual acuity 7 16 -0.41896506101931 0.67524166705907 |
| Positive romberg sign 8 12 0.4181162017093282 0.6758621598289531 |
| Bronchomalacia 2 6 -0.4175153369871254 0.6763015085485962 |
| Immune dysregulation 1 3 -0.4174761487130324 0.6763301666126504 |
| Palmar pits 3 5 -0.4174598765805615 0.6763420664276871 |
| Abducens palsy 2 5 0.4172153599550842 0.6765208912366947 |
| Chronic neutropenia 3 9 0.4160057345014685 0.6774058070118347 |
| Confetti like hypopigmented macules 0 3 0.4156898704143393 0.6776369544953467 |
| Increased circulating iga level 6 7 0.4154504615684461 0.677812172704505 |
| Elevated pulmonary artery pressure 18 47 -0.4151782967032653 0.6780113855109984 |
| Transient ischemic attack 7 15 -0.4150453092482203 0.6781087347138264 |
| Chronic atrophic gastritis 1 2 -0.4142940929334184 0.6786587393971706 |
| Abnormal number of incisors 3 10 0.4135146354708965 0.6792296018724926 |
| Abnormality of the posterior pituitary 7 16 -0.4128817999418029 0.6796932161048699 |
| Phonophobia 4 9 0.4124663244354762 0.6799976586438703 |
| Retinal hamartoma 4 14 0.4124410389364699 0.6800161884522131 |
| Motor deterioration 4 8 0.4122915943067177 0.6801257089374686 |
| Carpal synostosis 3 14 0.4112561125784623 0.6808847468998136 |
| Antenatal onset 7 19 -0.4111484092966049 0.6809637150850767 |
| Impaired distal proprioception 2 6 -0.4111254514236101 0.6809805482793594 |
| Abnormal fundus autofluorescence imaging 1 5 0.409585928524959 0.6821097209689038 |
| Adrenal hypoplasia 5 13 0.4085955551217168 0.6828364931375681 |
| Bradycardia 5 20 -0.40852741788391 0.6828865055527102 |
| Macrodactyly 2 2 -0.4076658075260992 0.683519043583354 |
| Decreased libido 2 2 -0.4076658075260992 0.683519043583354 |
| Galactorrhea 2 2 -0.4076658075260992 0.683519043583354 |
| Abnormal 2nd finger morphology 2 10 0.4073780923501002 0.6837303147784866 |
| Restrictive cardiomyopathy 1 5 -0.4069604284039455 0.684037052296167 |
| Abnormality of the leydig cells 1 3 -0.4065308674312164 0.684352581525874 |
| Abnormality of the protein c anticoagulant pathway 2 6 -0.4054021889616246 0.6851819022187713 |
| Long palpebral fissure 10 40 -0.4051943700548457 0.6853346430174039 |
| Abnormal glomerular filtration rate 2 4 -0.4037434994900166 0.6864013483611102 |
| Duodenal adenocarcinoma 3 5 -0.4037326640089946 0.6864093171494787 |
| Abnormal metaphyseal trabeculation 3 9 0.4031425684889053 0.6868433464750932 |
| Gaze evoked nystagmus 6 16 0.402836302968047 0.6870686527824363 |
| Paroxysmal ventricular tachycardia 5 8 -0.4022441246673645 0.6875043715890661 |
| Tinnitus 10 26 -0.4021479274369265 0.6875751623426432 |
| Right bundle branch block 6 16 0.4007266813734132 0.6886213645045749 |
| Mitral valve prolapse 13 41 -0.3987278572991357 0.6900937393043938 |
| Absent forearm bone 7 8 0.3963664903435183 0.6918346828674566 |
| Heteronymous hemianopia 5 10 -0.3961824795490347 0.6919704154077633 |
| Torsion dystonia 3 4 0.3961318878915776 0.6920077352474552 |
| Periodic paralysis 2 2 -0.3949422316148278 0.6928855218513224 |
| Posterior fossa cyst 4 5 0.3943277844484709 0.6933390526526293 |
| Renal tubular atrophy 3 6 0.3941453090639178 0.6934737610878252 |
| Ulnar deviation of the hand 2 8 0.3937202925332651 0.6937875577423418 |
| Sirenomelia 2 3 -0.393113332815304 0.6942357770624739 |
| Attenuation of retinal blood vessels 3 12 -0.3927636794634701 0.6944940328578246 |
| Reduced forced vital capacity 1 6 -0.3927556307678951 0.6944999780842251 |
| Brain imaging abnormality 25 68 -0.3927404509903701 0.6945111907863235 |
| Axonal regeneration 1 5 0.3920371712732359 0.6950307489908123 |
| Decreased number of large peripheral myelinated nerve fibers 7 8 0.3914843537993083 0.6954392515874723 |
| Decreased activity of mitochondrial complex iv 4 24 -0.3905773550809396 0.696109666699571 |
| Protein losing enteropathy 2 6 -0.3903394330481688 0.6962855679557594 |
| Abnormality of iron homeostasis 4 8 0.390193664404094 0.6963933461536715 |
| Retrognathia 27 135 -0.3901177869006653 0.6964494507727119 |
| Gingivitis 3 5 0.3898681043517296 0.6966340803814162 |
| Vertebral wedging 1 4 0.3897571489641208 0.6967161329327614 |
| Esophageal varix 8 9 0.3895001170323811 0.6969062240904449 |
| Uveitis 3 15 0.3881207977153165 0.6979266416576784 |
| Distal upper limb muscle weakness 5 11 0.3879897683749242 0.6980236053367654 |
| Abnormal lower limb bone morphology 104 307 -0.3876207398824915 0.6982967184493798 |
| Small earlobe 3 12 0.3866219178748931 0.6990361293157408 |
| Enlarged ovaries 2 7 0.3863572257533242 0.6992321242661104 |
| Abnormality of the lymph nodes 25 76 -0.3863448094092785 0.6992413186124411 |
| Schizencephaly 2 2 -0.3859178396917713 0.6995575180141103 |
| Osteomalacia 7 8 0.3856292782187173 0.6997712464389787 |
| Short foot 24 56 -0.3851461882899195 0.7001291092168596 |
| Caudate atrophy 4 4 -0.3848858317036439 0.7003220034758793 |
| Abnormality of circulating glucocorticoid level 9 22 -0.3842563496861279 0.7007884570324621 |
| Glossitis 4 4 -0.3840577239219565 0.7009356644805809 |
| Periportal fibrosis 2 4 -0.3829394294335135 0.7017646751698812 |
| Germ cell neoplasia 4 15 0.3828087095113233 0.7018616032640212 |
| Impaired distal vibration sensation 2 11 0.382749522713081 0.7019054915405836 |
| Profound global developmental delay 7 27 -0.3823676122983009 0.7021887101803965 |
| Hyperactive deep tendon reflexes 4 16 -0.3812310271485716 0.7030318280791217 |
| Generalized dystonia 1 4 0.3809342338825124 0.7032520492758991 |
| Respiratory distress 19 86 -0.3801853112331928 0.7038078620294681 |
| Cone shaped epiphyses of the phalanges of the hand 12 13 0.3801532772453537 0.7038316395771402 |
| Abnormality iris morphology 52 147 -0.3800347881399633 0.7039195918161596 |
| Cyclopia 1 3 0.3788787942872506 0.7047778720019018 |
| Abnormal eosinophil morphology 13 14 0.3786158816991087 0.7049731268237778 |
| Decreased circulating aldosterone level 1 4 0.3785177246789332 0.7050460291594502 |
| Diffuse alveolar hemorrhage 3 11 -0.3769943939708491 0.7061777710446391 |
| Abnormal blood phosphate concentration 14 15 0.3763654206174956 0.7066452496806097 |
| Prolonged qtc interval 1 4 -0.3756899399129899 0.7071474177258266 |
| Dyslexia 13 14 0.375280789759189 0.7074516514466873 |
| Papillary thyroid carcinoma 7 14 0.3742521701223413 0.7082167132936226 |
| Abnormal paranasal sinus morphology 9 39 -0.3736119585657728 0.7086930355894407 |
| Severe expressive language delay 1 5 -0.373234295102228 0.7089740735405075 |
| Decreased specific antibody response to vaccination 4 8 -0.3726430036454035 0.7094141621409635 |
| Allergy 5 10 0.3724233487914842 0.7095776723829568 |
| Delayed ossification of carpal bones 3 5 -0.3721327186330667 0.7097940369299627 |
| Reduced circulating prolactin concentration 4 8 -0.3719235507194954 0.7099497700110176 |
| Hemifacial spasm 4 8 -0.3719235507194764 0.7099497700110318 |
| Chromosomal breakage induced by ionizing radiation 4 8 -0.3719235507194734 0.709949770011034 |
| Bell shaped thorax 5 6 0.3713233736020164 0.7103966908312858 |
| Increased ldl cholesterol concentration 7 14 0.3708652158406196 0.7107379242426828 |
| Abnormal visual field test 4 9 -0.370695432587375 0.7108643926161211 |
| Limb myoclonus 3 8 0.3706403547663393 0.7109054207661274 |
| Cranial asymmetry 4 8 0.3702534061427902 0.711193687186968 |
| Oral cavity bleeding 5 11 0.3700098490221731 0.7113751519389622 |
| Abnormal circulating citrulline concentration 2 8 -0.3697409374431217 0.7115755262884902 |
| Abnormality of fundus pigmentation 7 8 0.3693008608966911 0.7119034839351035 |
| Erythroid hyperplasia 3 5 0.3690953931055213 0.7120566226746663 |
| Increased level of l fucose in urine 0 3 0.3679386496274226 0.7129189804104674 |
| Cardiac diverticulum 2 7 -0.3678009444655812 0.7130216647321594 |
| Sensory ataxia 2 6 0.3672764586385632 0.7134128122195456 |
| Elliptocytosis 1 5 0.3665573787961225 0.7139492051727703 |
| Cutaneous cyst 5 6 0.3665061670559417 0.7139874116355167 |
| Stridor 2 10 -0.3664851066168113 0.7140031239611937 |
| Aplasia hypoplasia involving the carpal bones 3 9 0.3662721300086384 0.7141620238444168 |
| Epidermal nevus 2 3 -0.3662385358615053 0.7141870892597844 |
| Epiphora 1 6 0.3654770277398866 0.7147553517858636 |
| Mood swings 1 6 0.3649245345440072 0.7151677394953235 |
| Punctate cataract 1 5 0.3646484698007264 0.7153738287734426 |
| Abnormal hdl cholesterol concentration 3 5 0.3645371158177772 0.7154569631968895 |
| Volvulus 2 9 0.3634421869570787 0.7162745924872425 |
| Femoral bowing 13 14 0.3631492743219815 0.7164933778435751 |
| Diaphragmatic eventration 3 8 -0.3625586240228306 0.7169346232829015 |
| Colorectal polyposis 4 13 0.362460942786483 0.7170076051826915 |
| Increased circulating acth level 5 6 0.3622858292861108 0.7171384465624546 |
| Abnormal lymphocyte morphology 23 66 -0.3621162462166816 0.717265163624393 |
| Inguinal freckling 3 3 -0.3620925292378756 0.7172828862135683 |
| Abnormal lymphatic vessel morphology 1 3 -0.3618123055844165 0.717492295765886 |
| Desquamation of skin soon after birth 1 6 0.3617151342428928 0.7175649163188318 |
| Venous malformation 2 3 -0.360510458506066 0.7184654369548773 |
| Decreased lymphocyte apoptosis 2 3 -0.3589373367895488 0.7196419675287447 |
| Rickets 2 10 0.3579157635948025 0.720406353515145 |
| Centrally nucleated skeletal muscle fibers 5 13 0.3572143731873024 0.7209313265514246 |
| Bilateral microphthalmos 2 8 0.3569427241887686 0.7211346843304711 |
| Unusual skin infection 3 3 -0.3561587337867025 0.7217216939409226 |
| Molluscum contagiosum 3 3 -0.3561587337867025 0.7217216939409226 |
| Elevated tissue non specific alkaline phosphatase 2 4 -0.3552803150954556 0.7223796010689243 |
| Abnormal cervical spine morphology 4 7 0.3550922126705676 0.7225205103987637 |
| Agenesis of incisor 0 6 0.3546939011999971 0.7228189204015714 |
| Diaphyseal thickening 1 4 0.3543812385930913 0.7230531928799646 |
| Vegetative state 2 6 0.3534183442581309 0.7237748353073565 |
| Abnormal eyelid physiology 2 13 0.3533307855930761 0.7238404684559328 |
| Deep plantar creases 3 8 0.3525613147974693 0.7244173437809776 |
| Disinhibition 25 90 -0.3522657121437825 0.724638999900167 |
| Recurrent infection of the gastrointestinal tract 4 11 -0.3514601673346597 0.7252431506118773 |
| Barrel shaped chest 3 7 0.3511568475970559 0.7254706817953114 |
| Bull s eye maculopathy 2 2 -0.3495016110958654 0.7267127615080258 |
| Syndactyly 53 162 -0.3490958695347329 0.7270173373858375 |
| Cholestatic liver disease 3 10 -0.3477489305842768 0.728028746044109 |
| Enlarged metaphyses 2 3 -0.3477009299529285 0.7280647981939747 |
| High myopia 13 14 0.3476944479612074 0.7280696667122413 |
| Increased circulating cortisol level 1 6 0.3475448533062087 0.7281820278661653 |
| Ovarian carcinoma 3 8 -0.3473781264565399 0.7283072639648736 |
| Reduced vital capacity 1 4 0.3470131686770077 0.7285814256181842 |
| Megaloblastic anemia 5 12 0.3470067152901105 0.7285862738098876 |
| Microscopic hematuria 2 6 0.3470008081082852 0.7285907116673711 |
| Diastema 11 12 0.3458453953526357 0.7294589072709476 |
| Malrotation of small bowel 3 5 0.3456616609407926 0.7295970002467493 |
| Generalized osteoporosis 2 5 0.3438294916943735 0.7309745197402635 |
| Abnormality of the middle ear ossicles 0 3 0.343421410596941 0.7312814545376809 |
| Abnormality of the stapes 0 3 0.343421410596941 0.7312814545376809 |
| Hyperorality 1 7 0.3426282896082043 0.7318781168911088 |
| Corneal opacity 36 100 -0.3423793811483001 0.7320654033675944 |
| Spinal canal stenosis 5 13 0.3422129177666917 0.7321906645071179 |
| Ridged nail 2 9 0.3418334618672227 0.7324762259147573 |
| Angular cheilitis 3 4 0.3412670418667133 0.732902556983734 |
| Severely reduced visual acuity 4 6 -0.3406094716846939 0.733397598031067 |
| Absent brainstem auditory responses 4 5 0.3399762613451902 0.7338744049715018 |
| Abnormal spermatogenesis 14 27 -0.3389910265921944 0.7346164901111167 |
| Rhabdomyosarcoma 5 13 0.3385429893512118 0.7349540366700724 |
| Long toe 3 14 -0.3384551024664184 0.7350202557364087 |
| Slurred speech 7 18 -0.337735830405388 0.7355622709282543 |
| Abnormality of immune serum protein physiology 3 13 -0.3366102729192646 0.736410711041227 |
| Abnormal circulating aspartate family amino acid concentration 6 13 0.3358621200390219 0.7369748432175367 |
| Abnormality of the extraocular muscles 4 5 0.3357873256144467 0.7370312485030763 |
| Joint hemorrhage 1 3 -0.3356618420825836 0.7371258835307031 |
| Aplasia hypoplasia of the proximal phalanges of the hand 4 5 0.3353256195257575 0.7373794697634133 |
| Pulmonary artery dilatation 6 25 -0.3352927355629608 0.7374042730857895 |
| Axillary pterygium 2 4 -0.333718892236036 0.738591692143652 |
| Abnormal levels of alpha fetoprotein 5 11 0.3334167276571758 0.7388197380002377 |
| Progressive distal muscle weakness 1 5 0.3327651058547445 0.7393115999996855 |
| Progressive visual loss 17 42 -0.3320758434135139 0.7398319902668713 |
| Limited extraocular movements 10 11 0.3318431835958263 0.7400076743610557 |
| Absent epiphyses 4 10 0.33132685450575 0.7403976088151978 |
| Thyroiditis 6 15 -0.3303908443435946 0.7411046586556829 |
| Abnormal muscle fiber protein expression 2 10 0.3264762189994601 0.7440640789797093 |
| Female hypogonadism 3 8 0.3260882914825461 0.7443575553414481 |
| Lower limb muscle weakness 16 72 -0.325484686026729 0.7448142709887677 |
| Broad palm 2 12 0.3246325550148277 0.7454591852320176 |
| Coxa valga 15 38 -0.323851927016551 0.7460501407984887 |
| Aqueductal stenosis 2 10 0.3237502494911545 0.7461271243177985 |
| Neuroinflammation 4 5 0.3222621275299942 0.747254121756066 |
| Cystoid macular edema 2 8 -0.3219581056989142 0.7474844327842582 |
| Adenomatous colonic polyposis 2 8 -0.3213118644103614 0.7479740662321734 |
| Orchitis 2 4 0.3210686035464479 0.7481584024652168 |
| Pleuritis 2 4 0.3210686035464479 0.7481584024652168 |
| Generalized hypopigmentation of hair 3 15 -0.3205937483139742 0.7485182758645368 |
| Hemivertebrae 5 20 -0.3199464402424739 0.7490089324674316 |
| Diffuse cerebellar atrophy 1 10 0.3199197376195293 0.7490291751192562 |
| Acute pancreatitis 1 4 -0.3195873454676498 0.7492811685281004 |
| Repetitive compulsive behavior 5 6 0.3192979363276869 0.7495005974232549 |
| Decreased circulating androgen concentration 8 18 -0.319249002728251 0.7495377006944706 |
| Erythrocyte inclusion bodies 1 6 0.3189751996602696 0.7497453190356356 |
| Porokeratosis 5 6 0.3188565759540536 0.7498352741957699 |
| Autophagic vacuoles 2 2 -0.3174956241031336 0.7508675593157998 |
| Deep set nails 0 4 0.3163157813320925 0.7517628338798223 |
| Expressive language delay 4 20 -0.3158942210185975 0.7520827984637768 |
| Split nail 3 6 0.3155277361913469 0.7523609953405119 |
| Lung adenocarcinoma 3 6 -0.3152029600447321 0.7526075582464344 |
| Nephrogenic diabetes insipidus 3 3 -0.3144914605682588 0.7531478011863693 |
| Delayed ability to roll over 3 6 0.3131337703169989 0.7541790332963019 |
| Abnormal shoulder physiology 1 5 0.3126768988188902 0.7545261482247128 |
| Phocomelia 2 4 0.3124677016260966 0.7546851054650903 |
| Limb fasciculations 3 5 0.3122236750736813 0.7548705407163583 |
| Intrinsic hand muscle atrophy 3 6 0.3121970402775905 0.7548907812959156 |
| Leiomyosarcoma 10 17 -0.3118307003762645 0.755169191034738 |
| Abnormality of the plantar skin of foot 26 71 -0.311828432577146 0.7551709146080072 |
| Malar prominence 4 5 0.3115087735840698 0.7554138741086405 |
| Gingival recession 2 3 0.3113619979323359 0.7555254402810172 |
| Dark urine 1 3 0.3093009586245203 0.7570926018231601 |
| Delayed social development 5 5 -0.308704455354101 0.7575463543805507 |
| Abnormality of the anus 30 84 -0.3086765151433807 0.7575676101983178 |
| Full cheeks 23 64 -0.3081554422240807 0.7579640556358684 |
| Heart block 7 39 -0.3081520106052167 0.7579666667092906 |
| Schwannoma 1 6 0.3077184527634858 0.758296577340652 |
| Fibular hypoplasia 7 8 0.3074802792911316 0.7584778313191511 |
| Bone marrow foam cells 2 4 0.3074228256011063 0.7585215565216077 |
| Nonketotic hypoglycemia 3 7 0.3074052990300724 0.7585348952940933 |
| Ovoid vertebral bodies 5 13 -0.3071029658460257 0.7587650003019477 |
| Abnormal facial expression 21 63 -0.3067806556709262 0.7590103332757148 |
| Neuronal loss in basal ganglia 4 7 0.3067198958104542 0.7590565846030519 |
| Atrophy degeneration involving the caudate nucleus 6 7 0.3060987076736469 0.7595294918606625 |
| Upgaze palsy 6 7 0.306098707673644 0.7595294918606648 |
| Urethral stricture 1 4 0.3060226671176805 0.759587387316818 |
| Abnormal urine cytology 22 65 -0.3059098399572915 0.7596732936940476 |
| Cogwheel rigidity 2 10 -0.3054038418370642 0.7600585961168882 |
| Plantar hyperkeratosis 20 58 -0.304547737380702 0.7607106295906219 |
| Aplasia hypoplasia of the pubic bone 8 9 0.304530244497125 0.7607239544417062 |
| Nocturnal hypoventilation 1 4 0.302625732031794 0.7621751021477963 |
| Hypoplasia of the ear cartilage 1 7 0.3023477966116195 0.7623869457566403 |
| Cerebellar dysplasia 6 7 0.3019840312834962 0.7626642361973635 |
| Abnormal oral mucosa morphology 32 102 -0.3019720904745509 0.7626733389342881 |
| Abnormal substantia nigra morphology 4 8 -0.301680119230767 0.7628959251387972 |
| Hypothalamic gonadotropin releasing hormone deficiency 2 3 0.3016222931303399 0.7629400115747498 |
| Increased female libido 2 3 0.3016222931303399 0.7629400115747498 |
| Non obstructive azoospermia 2 3 0.3016222931303399 0.7629400115747498 |
| Heterotaxy 2 8 0.3013350766868277 0.7631589958742808 |
| Bilateral tonic clonic seizure with focal onset 1 4 0.3006830095142517 0.7636562260212445 |
| Erythema 18 41 -0.3006414885629088 0.7636878908925202 |
| Abnormality of circulating leptin level 2 5 0.2997142374050672 0.764395137706307 |
| Abnormality of the brainstem white matter 2 6 0.2989892765221933 0.764948227624471 |
| Heat intolerance 7 8 0.297646199137656 0.7659732099602605 |
| Abnormal shoulder morphology 13 54 -0.2975713717427274 0.7660303272696758 |
| Enterocolitis 1 3 0.2974526515969641 0.766120951439764 |
| Chondrocalcinosis 7 8 0.2973335117014206 0.7662118992401459 |
| Abnormality of endocrine pancreas physiology 7 8 0.2973335117014188 0.7662118992401472 |
| Large earlobe 3 12 -0.2970010324371983 0.7664657209127972 |
| Generalized hyperkeratosis 2 8 0.2967852486592842 0.7666304682079368 |
| Hepatic fibrosis 14 55 -0.2967051840975931 0.7666915988419618 |
| Severe muscular hypotonia 11 51 -0.2957185409174642 0.7674450365398717 |
| Thromboembolism 4 8 -0.2953430803992091 0.7677318100477906 |
| Short sternum 1 4 -0.2947394288531665 0.768192940547912 |
| Abnormal arm span 4 4 -0.2946974226939153 0.7682250321836865 |
| Increased arm span 4 4 -0.2946974226939153 0.7682250321836865 |
| Agenesis of corpus callosum 31 149 -0.2940595494289734 0.7687123999010723 |
| Agammaglobulinemia 3 4 0.2935699149441029 0.7690865676611893 |
| Progressive proximal muscle weakness 2 5 -0.2932603012272888 0.7693231953272672 |
| Atrophic scars 6 10 0.2929953867937178 0.7695256778468709 |
| Rieger anomaly 2 6 0.2928729461324165 0.7696192684466687 |
| Peripheral opacification of the cornea 1 4 -0.2927920029579263 0.7696811412412423 |
| Abnormal thalamic mri signal intensity 5 13 -0.2923104455351297 0.7700492730357815 |
| Progressive pes cavus 6 7 0.2916911846462391 0.7705227498984468 |
| Broad ribs 3 8 0.291617583924004 0.7705790295108832 |
| Increased urine alpha ketoglutarate concentration 4 7 0.2914022947482347 0.7707436597116597 |
| Numerous pigmented freckles 2 5 0.2913322798076007 0.7707972018970963 |
| Macular degeneration 6 21 -0.2900667224339158 0.7717651934897982 |
| Myeloid leukemia 6 6 -0.2897519143097924 0.7720060372103235 |
| Abnormal pericardium morphology 8 20 -0.2895917138507544 0.7721286068881024 |
| Peritoneal abscess 5 6 0.2891416651806145 0.7724729704040754 |
| Functional intestinal obstruction 5 6 0.2891416651806145 0.7724729704040754 |
| Extrahepatic cholestasis 5 6 0.2891416651806145 0.7724729704040754 |
| Patent ductus arteriosus 42 149 -0.2888310861774157 0.7727106421228558 |
| Germinoma 3 4 0.2881558513153919 0.773227441611642 |
| Endocarditis 2 8 0.2875985939553934 0.7736540212896221 |
| Diaphragmatic weakness 1 7 0.2868684453154263 0.7742130524470414 |
| Aplasia hypoplasia of the distal phalanges of the hand 16 58 -0.2867866748429092 0.7742756665055219 |
| Pulmonary cyst 2 9 -0.2865573234109876 0.774451295483847 |
| Prominent antitragus 2 4 -0.2859432657802142 0.774921575267655 |
| Abnormal liver physiology 2 9 -0.2853620138982309 0.7753668066528765 |
| Abnormality of the breast 64 186 -0.285220620830998 0.7754751230775452 |
| Meningitis 9 11 0.2848830806225379 0.7757337188203128 |
| Recurrent 3 4 0.2847469961575912 0.7758379826595494 |
| Hashimoto thyroiditis 4 4 -0.2845924451047528 0.775956399944832 |
| Drowsiness 2 9 -0.284146845861396 0.7762978480078897 |
| Abnormal pulmonary valve morphology 9 27 -0.2839349994453259 0.7764601941251486 |
| Type ii lissencephaly 1 7 -0.2836049109227702 0.7767131732103456 |
| Chorioretinal dysplasia 5 11 -0.2835717000870702 0.7767386272302357 |
| Ulnar bowing 3 5 -0.2829280638743988 0.777231981276558 |
| Eunuchoid habitus 3 4 0.2821344141258485 0.777840445985472 |
| Heparan sulfate excretion in urine 2 5 0.2814141572829073 0.7783927607603642 |
| Abnormal natural killer cell physiology 4 5 0.2810005022145043 0.7787100146344805 |
| Oligomenorrhea 3 9 0.2804062091293712 0.7791658738636293 |
| Chylothorax 2 7 -0.2802905176853555 0.7792546251325667 |
| Protruding ear 29 77 -0.2782032468404012 0.7808563425928059 |
| Papilloma 8 19 -0.277981312603447 0.7810267039983563 |
| Eeg with generalized slow activity 5 16 -0.2772883874791185 0.7815586755542585 |
| Epidermoid cyst 4 5 0.2770685275071838 0.7817274875339444 |
| Abnormality of the extrinsic pathway 4 10 -0.2770414471121103 0.7817482810030354 |
| Extrapyramidal muscular rigidity 3 8 0.2763285426709735 0.7822957351576836 |
| Deep philtrum 7 31 -0.2757945721113589 0.7827058529227311 |
| Scanning speech 1 5 0.2752742200587799 0.7831055690614193 |
| Nail pits 1 2 0.2750154947521231 0.7833043340580261 |
| Congenital malformation of the great arteries 49 185 -0.2749164600210667 0.783380420958167 |
| Generalized clonic seizure 2 9 -0.2742060340391875 0.783926291286327 |
| Neonatal insulin dependent diabetes mellitus 1 5 -0.2738237098319275 0.784220101940214 |
| Adrenal overactivity 1 7 0.2731896862233952 0.7847074077470386 |
| Recurrent paroxysmal headache 4 17 -0.2731473437928428 0.7847399548316487 |
| Septo optic dysplasia 1 4 0.2723231237161519 0.7853735777078101 |
| Abnormal serum interferon level 4 9 0.2711096702297808 0.7863066842473607 |
| Albuminuria 7 8 0.2692392647038854 0.7877455665837183 |
| Skull asymmetry 1 2 0.2689088278055234 0.7879998435102915 |
| Abnormality of the pituitary gland 28 105 -0.268419003113904 0.7883768136741014 |
| Hypoplasia of the pons 6 29 -0.2680839032508761 0.7886347358273866 |
| Metaphyseal striations 3 8 0.2680175215538711 0.7886858317359089 |
| Venous thrombosis 11 25 -0.2675495274250214 0.7890460861117683 |
| Abnormal proportion of cd4 positive t cells 8 15 -0.2661474004498602 0.7901256907210572 |
| Flattened epiphysis 2 6 -0.2646057281233382 0.7913132069798037 |
| Excessive wrinkled skin 3 15 -0.2641734447604595 0.7916462724304676 |
| Vitreous hemorrhage 3 8 -0.263974447146215 0.7917996087931565 |
| Severe demyelination of the white matter 0 5 0.2638622413583666 0.7918860718105136 |
| Autosomal dominant germline de novo mutation 0 4 0.2637539432538 0.7919695260911219 |
| Lack of peer relationships 1 4 0.2634950890309728 0.7921690082411965 |
| Decreased activity of mitochondrial complex ii 1 6 0.2629505007037503 0.7925887315318285 |
| Aplasia involving bones of the lower limbs 3 4 0.2627846121054577 0.7927165965853766 |
| Congenital nonbullous ichthyosiform erythroderma 3 6 0.2626184597935316 0.7928446704938441 |
| Urogenital fistula 4 16 -0.2621923962634021 0.7931731152989736 |
| Curly hair 6 19 -0.2612999782602674 0.7938611833327633 |
| Progressive extrapyramidal movement disorder 2 7 0.2612273369554232 0.7939171979677171 |
| Hypoplasia of the radius 8 18 -0.2605522826391422 0.7944377917449554 |
| Eeg with polyspike wave complexes 4 12 -0.2598446735070527 0.7949835897056103 |
| Delayed eruption of primary teeth 3 4 0.2588394009589351 0.795759155978957 |
| Abnormality of the musculature of the lower limbs 16 47 -0.2583274088774813 0.7961542347271413 |
| Abnormal placental membrane morphology 3 5 -0.2579766984458962 0.796424890635405 |
| Lower limb undergrowth 3 5 -0.2570436774466391 0.7971450557941688 |
| Abnormal c reactive protein level 3 10 -0.2570242370594983 0.7971600629648643 |
| Lacrimal duct stenosis 3 6 -0.254893508181635 0.7988053504232839 |
| Blistering by anatomical location 1 3 0.2547314628747615 0.79893051380194 |
| Increased urine proteinogenic amino acid derivative level 3 4 0.2543610234445995 0.799216659666595 |
| Pericarditis 4 7 0.2538630249453483 0.7996013809914837 |
| Progressive spastic paraplegia 12 45 -0.2536064629345569 0.7997996031426844 |
| Abnormal heart valve physiology 33 147 -0.2535285491094343 0.7998598026288537 |
| Abnormal blood sodium concentration 4 16 -0.2535115623701919 0.7998729274533032 |
| Decreased facial expression 18 53 -0.2532447680106083 0.8000790738479684 |
| Opportunistic infection 2 3 0.2528851782633685 0.8003569433239617 |
| Hypopigmented macule 4 9 -0.2524029036307706 0.800729656016494 |
| Abnormal renal pelvis morphology 22 98 -0.252197148756476 0.8008886818277114 |
| Saccadic oscillation 3 4 0.2518618520519847 0.8011478468559141 |
| Gastric ulcer 1 4 -0.2514382713845636 0.8014752815859121 |
| Hypomimic face 8 22 -0.2511425669106734 0.8017038866178594 |
| Aplasia hypoplasia of the clavicles 10 24 -0.2508483489885678 0.8019313592671884 |
| Joint contracture of the hand 19 89 -0.2505935798006081 0.8021283459514432 |
| Moderate albuminuria 1 4 0.2500668605423844 0.802535643386298 |
| Abnormally ossified vertebrae 5 8 -0.2487030199065498 0.8035905126801448 |
| Psychogenic non epileptic seizure 11 49 -0.2484843424706488 0.8037596831637088 |
| Choroid plexus cyst 1 4 -0.2483130471187854 0.8038922049372981 |
| Large for gestational age 6 17 -0.2481119218969814 0.804047811631887 |
| Complete duplication of phalanx of hand 3 8 0.2479374017225628 0.8041828408084 |
| Hepatocellular adenoma 0 4 0.2473400911414 0.8046450341877853 |
| Severe lactic acidosis 0 5 0.2467449546446968 0.805105613197576 |
| Abnormal growth hormone level 18 48 -0.246633943254367 0.8051915329385819 |
| Psychotic episodes 1 5 0.2457564580855477 0.8058707648599461 |
| Ependymoma 5 10 -0.2443723561984161 0.8069424494169906 |
| Cochlear malformation 3 3 -0.2437473709056052 0.8074264829277895 |
| Abnormality of lysosomal metabolism 4 7 0.2437472304132965 0.8074265917434236 |
| Synostosis involving digits 5 6 0.2433931991478433 0.8077008117279227 |
| Chromosomal breakage induced by crosslinking agents 1 5 0.2430912951617831 0.8079346744506635 |
| Shoulder dislocation 2 6 0.2422943700969624 0.8085520758445652 |
| Hyperkeratotic papule 4 4 -0.2420293859396015 0.80875739333146 |
| Hyperparathyroidism 5 6 0.2412354176436716 0.8093726620079307 |
| Spontaneous abortion 4 5 0.2405427428752918 0.809909531714704 |
| Mediastinal lymphadenopathy 8 8 -0.2403395595014756 0.810067029526172 |
| Abnormality of renin angiotensin system 1 2 -0.23960130129971 0.8106393558658027 |
| Hypothermia 7 18 -0.2388909542809376 0.8111901399563475 |
| Infection related seizure 8 35 -0.2388765564229167 0.8112013046379791 |
| Abnormality of ulnar metaphysis 2 2 -0.2387057802431455 0.8113337343254665 |
| Abnormal connection of the cardiac segments 17 92 -0.2383338381585084 0.8116221783220823 |
| Oligosacchariduria 4 8 0.2382576958603658 0.8116812304244068 |
| Fluctuations in consciousness 7 14 -0.2382232567937381 0.8117079399686231 |
| Decreased specific anti polysaccharide antibody level 3 4 0.237772550532494 0.8120575096653433 |
| Eeg with multifocal slow activity 5 16 -0.237599853908151 0.8121914638343912 |
| Dilatation of the ventricular cavity 2 4 -0.2375513839864763 0.8122290610875638 |
| Digenic inheritance 1 4 0.2374678332810548 0.8122938708947969 |
| Non hodgkin lymphoma 4 19 -0.2372504842594265 0.8124624733177419 |
| Ectropion of lower eyelids 0 3 0.2362323664966599 0.8132523653169703 |
| Follicular hyperplasia 1 3 -0.234111517101989 0.8148984050078578 |
| Aplasia involving bones of the extremities 4 7 -0.2332689328296556 0.8155525812133329 |
| Degeneration of the striatum 3 6 0.2327015904453447 0.8159931341192856 |
| Adrenocorticotropic hormone deficiency 1 3 0.2324542299435735 0.8161852327989709 |
| Sudden loss of visual acuity 1 3 0.2324542299435681 0.8161852327989751 |
| Cervical subluxation 2 4 -0.2322275927322434 0.8163612475927087 |
| Chronic leukemia 6 7 0.2322206014431387 0.8163666774322995 |
| Arm dystonia 1 7 0.2308493415111006 0.8174318473433559 |
| Vertebral arch anomaly 3 6 -0.2306655427087174 0.8175746446004233 |
| Abnormality of the periungual region 7 7 -0.2296799385914582 0.818340484878654 |
| Abnormality of male internal genitalia 7 20 -0.2291804773179471 0.8187286456418417 |
| Urinary bladder sphincter dysfunction 4 16 -0.2290616574953284 0.8188209940680686 |
| Pain insensitivity 6 7 0.2279659691981531 0.819672696617231 |
| Polar cataract 5 6 0.2273362666689542 0.8201622745449664 |
| Abnormality of the intrahepatic bile duct 2 6 0.2267555476030693 0.8206138311863163 |
| Generalized lymphadenopathy 0 3 0.2261680209753662 0.8210707417792134 |
| Truncal obesity 6 26 -0.2253072478673197 0.821740261637812 |
| Acetabular dysplasia 3 14 -0.2245269872765349 0.8223472700945713 |
| Increased circulating antibody level 11 29 -0.2238585093034713 0.8228674011875501 |
| Eeg with spike wave complexes 6 23 -0.2237564049216323 0.8229468536907738 |
| Increased sensitivity to ionizing radiation 4 9 -0.2227696993880976 0.8237147518072834 |
| Sparse lateral eyebrow 4 13 -0.2222862598191265 0.8240910476341818 |
| Hemiatrophy 0 4 0.2211494617658674 0.8249760586175938 |
| Abnormal t wave 1 6 -0.2209643660288859 0.8251201789734188 |
| Decreased circulating total igm 7 16 -0.2209342725168332 0.8251436111219559 |
| Flat occiput 13 29 -0.220487631813586 0.8254914037663608 |
| Long eyelashes 15 60 -0.2201562113943038 0.8257494981863032 |
| Prolonged bleeding following procedure 2 4 -0.2199471413359776 0.825912321667829 |
| Cervical kyphosis 1 3 -0.219804915204407 0.826023091468435 |
| Abnormal cervical curvature 1 3 -0.219804915204407 0.826023091468435 |
| Thenar muscle atrophy 2 4 0.2197657834664247 0.8260535689986619 |
| Abnormal renal resorption 6 6 -0.2195367093504888 0.8262319873197965 |
| Deformed sella turcica 3 9 -0.2192695753251996 0.8264400605893045 |
| Abnormality of the intrinsic pathway 6 19 -0.2188365008426201 0.8267774123720353 |
| Multiple joint dislocation 2 5 -0.2159327126837394 0.8290401975298525 |
| Impaired oropharyngeal swallow response 4 4 -0.2140971188272545 0.8304713225511133 |
| Abnormal erythrocyte sedimentation rate 5 14 -0.212841183015684 0.831450840229611 |
| Functional abnormality of male internal genitalia 18 52 -0.2127249998457058 0.8315414659735452 |
| Abnormal circulating proline concentration 3 6 -0.2113575029675864 0.8326083153524495 |
| Micrographia 0 4 0.2107551887843577 0.8330783072477732 |
| Abnormal pulmonary thoracic imaging finding 7 35 -0.2105469322562903 0.8332408258286024 |
| Corneal dystrophy 4 9 -0.2105210494234741 0.8332610246910832 |
| Chronic lymphatic leukemia 5 6 0.2101171712614235 0.8335762238943161 |
| Absent or minimally ossified vertebral bodies 3 7 -0.2101029191760651 0.8335873471582917 |
| Prominent sternum 2 5 -0.209619465836272 0.8339646856283158 |
| Cubitus valgus 8 25 -0.2095975111752469 0.8339818222921562 |
| Subcortical cerebral atrophy 2 7 -0.2091739073919566 0.8343124807514246 |
| Auditory hallucinations 3 4 0.208289377419625 0.8350030253545164 |
| Hypermetric saccades 4 5 0.2079415278025586 0.8352746233114268 |
| Axonal loss 13 13 -0.2074525120153967 0.8356564758026188 |
| Cough 9 41 -0.2072475693976446 0.8358165186623274 |
| Broad based gait 19 44 -0.2066258848143297 0.8363020433278285 |
| Abnormality of skeletal maturation 57 159 -0.2062956585725864 0.8365599695590344 |
| Atrophy degeneration involving the spinal cord 4 14 -0.2062291873755246 0.8366118896217623 |
| Abnormality of macular pigmentation 1 6 0.2056684053811953 0.8370499397752635 |
| Acquired abnormal hair pattern 5 12 -0.2056149935636221 0.8370916646061843 |
| Undetectable visual evoked potentials 1 6 -0.2054847646586569 0.8371934001745229 |
| Elevated circulating growth hormone concentration 2 4 -0.2053322933383543 0.8373125151049945 |
| Asthenia 1 5 0.204841343298855 0.8376960845575618 |
| Hypoproteinemia 3 6 -0.2042766800283154 0.8381372923777923 |
| Acne inversa 5 6 0.2042506235231607 0.8381576532347828 |
| Short lower limbs 2 3 -0.2038275223555066 0.838488284577366 |
| Ectodermal dysplasia 1 4 -0.2021258166602146 0.8398183656080449 |
| Hyperketonemia 2 3 -0.2016563215203997 0.8401854113887788 |
| Abnormality of metacarpophalangeal joint 2 8 -0.2007710977988994 0.8408775633601162 |
| Adrenocorticotropin deficient adrenal insufficiency 2 4 -0.1997855656552003 0.8416482906844946 |
| Abnormal tracheobronchial morphology 29 101 -0.1992430198993271 0.8420726489581838 |
| Hyperventilation 10 10 -0.1991158428338586 0.8421721285738497 |
| Ureteral stenosis 4 10 -0.1979545497466132 0.8430806240196351 |
| Abnormal atrioventricular valve morphology 18 60 -0.1957714959323467 0.8447890212868745 |
| Abnormality of somatosensory evoked potentials 2 8 -0.1937011888980686 0.8464098608697457 |
| Abnormal clavicle morphology 20 40 -0.1933606391868831 0.8466765390582516 |
| Cupped ear 9 25 -0.1923934739719211 0.8474340039314756 |
| Aplasia hypoplasia of toe 14 62 -0.1913464508340679 0.8482541708444407 |
| Abnormality of the palm 70 203 -0.190826905066937 0.8486612088180558 |
| Abnormal iris pigmentation 8 36 -0.1907732714483903 0.8487032303601398 |
| Abnormal bronchus physiology 3 9 -0.1905723842263313 0.8488606278279756 |
| Thin lower lip vermilion 3 3 -0.1894303240001484 0.8497555595829813 |
| Reduced factor xii activity 3 3 -0.1887115436882393 0.8503189035987087 |
| Flaring of rib cage 0 4 0.1883726395406403 0.8505845462261312 |
| Flat nasal alae 2 5 -0.186553759008011 0.8520105251025212 |
| Spina bifida occulta 8 31 -0.1856911818616529 0.8526869439089761 |
| Splanchnic vein thrombosis 2 4 -0.1851368814096873 0.8531216744204406 |
| Chilblains 2 5 0.1850364724379121 0.8532004286253172 |
| Restless legs 3 8 -0.1833690462260345 0.8545084615889185 |
| Heterotropia 33 92 -0.183345654908297 0.8545268140485427 |
| Decreased specific antibody response to protein vaccine 1 4 -0.1831262150261565 0.8546989869565587 |
| Cervical myelopathy 2 3 -0.1824676198234603 0.8552157633944941 |
| Cerebellar cyst 14 69 -0.1813101877218592 0.8561241099105759 |
| Paraplegia 26 92 -0.180026733048923 0.8571315811220113 |
| Primary hypercortisolism 3 4 0.1799875254069892 0.8571623615501851 |
| Abnormality of the carpal bones 17 32 -0.1788971524690985 0.8580184587188282 |
| Methylmalonic acidemia 5 12 -0.1787011578699078 0.8581723599715358 |
| Symphalangism affecting the phalanges of the hand 1 4 0.1781785617467645 0.8585827455607384 |
| Increased muscle fatiguability 4 7 -0.1776165669362967 0.8590241128916813 |
| Abnormal hepatic iron concentration 2 4 -0.1770195526215826 0.8594930313435241 |
| Upper limb asymmetry 1 4 0.1769186907829619 0.8595722570844608 |
| Low posterior hairline 12 54 -0.1756229886391032 0.860590140734961 |
| Nasal regurgitation 1 4 -0.1740656914787608 0.8618138357800003 |
| Ureterocele 3 8 -0.1731043678057103 0.8625693917705837 |
| Peripheral edema 1 4 -0.172854891040463 0.8627654895588104 |
| Pulmonary venous hypertension 2 3 0.1718749903809002 0.863535808756094 |
| Conspicuously happy disposition 2 4 -0.1713704893689706 0.863932457574274 |
| Atrial flutter 2 4 -0.1674283732957066 0.8670330016001944 |
| Bacterial endocarditis 2 4 -0.1674283732957066 0.8670330016001944 |
| Increased serum testosterone level 1 2 -0.1645606813559118 0.8692897809414359 |
| Aplasia hypoplasia of the breasts 7 16 -0.1620251037769639 0.8712860851095634 |
| Depressed nasal tip 2 8 -0.161155289146179 0.8719710948390156 |
| Pendular nystagmus 6 12 -0.1611331104050424 0.871988562638288 |
| Hyperpigmentation of the skin 42 158 -0.160927664726493 0.8721503729791256 |
| Broad clavicles 3 4 -0.1608137705891683 0.872240079041334 |
| Abnormal bleeding 53 181 -0.1601579941548564 0.8727566179929058 |
| Aplasia hypoplasia of the gallbladder 1 4 -0.1586533126011903 0.8739420233123336 |
| Spina bifida 18 61 -0.1582231472823653 0.8742809646003435 |
| Increased circulating prolactin concentration 6 13 -0.1580430525417477 0.8744228739763291 |
| Status epilepticus 22 82 -0.1576463744268473 0.8747354589419754 |
| Lethal skeletal dysplasia 1 5 -0.1575272888674222 0.8748293029639698 |
| Mitochondrial respiratory chain defects 2 9 -0.1549883658014087 0.8768304892192829 |
| Vascular calcification 5 11 -0.1548714839107277 0.8769226349127943 |
| Cystic renal dysplasia 2 4 -0.1539891603307424 0.877618282445096 |
| Bilateral polymicrogyria 3 13 -0.1514995504181053 0.8795816654586393 |
| Focal onset seizure 31 138 -0.1514651526451368 0.8796087978161276 |
| Pneumothorax 3 13 -0.1507340522617153 0.8801855103040002 |
| Eclabion 20 57 -0.1492281743996027 0.8813735889428296 |
| Quadriceps muscle weakness 4 9 -0.1490182248460693 0.881539252184272 |
| Irregular menstruation 5 11 -0.1481960801015195 0.8821880252868428 |
| Titubation 4 16 -0.1473567381879042 0.8828504506113029 |
| Csf lymphocytic pleiocytosis 4 7 -0.1451008648262516 0.8846312354837487 |
| Addictive behavior 3 13 -0.1450904696582461 0.8846394427784321 |
| Aniridia 6 19 -0.1435777028831798 0.8858339487241356 |
| Primitive neuroectodermal tumor 4 28 -0.1430997646156308 0.886211390838878 |
| Juvenile myelomonocytic leukemia 5 5 -0.1423899694834333 0.8867719848526678 |
| Chorioretinal hypopigmentation 4 4 -0.1420092935515585 0.8870726648942235 |
| Pulmonary hemorrhage 3 13 -0.1418606672480982 0.8871900630269713 |
| Relative macrocephaly 13 56 -0.141781548431906 0.8872525590397276 |
| Biliary atresia 1 4 -0.140955409664629 0.8879051684831971 |
| Neonatal hypoglycemia 3 18 -0.1391133900766759 0.8893605473612629 |
| Diastasis recti 2 7 -0.1385308532988346 0.8898208872771263 |
| Aplasia hypoplasia of the cerebral white matter 3 14 -0.137843658206141 0.8903639794205984 |
| Multiple gastric polyps 3 3 -0.1368915132971975 0.8911165470924653 |
| Preaxial foot polydactyly 3 7 -0.1368780947977962 0.8911271536689283 |
| Premature loss of primary teeth 1 5 -0.1366129499433206 0.8913367399029353 |
| Ventricular fibrillation 5 10 -0.1357987853292446 0.8919803513334323 |
| Hand oligodactyly 3 5 -0.1357374066494066 0.8920288751480367 |
| Narrow palpebral fissure 11 28 -0.1345354937359519 0.8929791462546635 |
| Patellar hypoplasia 3 3 -0.1342475509556787 0.8932068259700117 |
| Hypodontia 17 77 -0.1314471106752504 0.8954216230056449 |
| Macular coloboma 3 3 -0.1309602297553529 0.8958067684388826 |
| Retinal vascular tortuosity 9 26 -0.1307711697565243 0.8959563303082294 |
| Cerebral cortical atrophy 48 178 -0.1306568730797924 0.896046750089655 |
| Sleep apnea 7 38 -0.1299235665668653 0.89662689889488 |
| Venous insufficiency 5 11 -0.1284537953434845 0.8977898611980017 |
| Focal non motor seizure 5 16 -0.1277940808037262 0.8983119344897663 |
| Abnormality of epiphysis morphology 35 106 -0.1277872469578202 0.898317342769297 |
| Abnormality of circulating fibrinogen 3 15 -0.1273823879146987 0.8986377550881042 |
| Hypermetropia 25 92 -0.1271446851682027 0.8988258847789528 |
| Immunologic hypersensitivity 13 51 -0.1268078611445464 0.8990924736771488 |
| Complete atrioventricular canal defect 1 6 -0.1260295087708624 0.8997085661833575 |
| Spastic paraplegia 24 85 -0.1256062553724818 0.900043611106081 |
| Unusual fungal infection 4 16 -0.1250434360144201 0.9004891632101812 |
| Abnormality of the pharynx 20 85 -0.1244114310263368 0.900989523016012 |
| Onychogryposis 3 5 -0.1240893446076077 0.9012445347231236 |
| Fetal onset 4 12 -0.1237721623320898 0.9014956735390264 |
| Anisopoikilocytosis 2 5 -0.1237317719804989 0.9015276545495988 |
| Hyperglycemia 4 12 -0.1224440459550547 0.9025473572907036 |
| Retinal telangiectasia 4 10 -0.1195350911211027 0.9048514406332586 |
| Hypoplasia of the femoral head 1 2 -0.1192011103003716 0.9051160270299208 |
| Focal tonic seizure 1 3 -0.1183328002547987 0.9058039691233006 |
| Antinuclear antibody positivity 3 8 -0.1179891993243684 0.906076215793091 |
| Abnormal ureter physiology 29 83 -0.1174342049416532 0.9065159799625626 |
| Abnormal vascular physiology 34 89 -0.1173346133962405 0.9065948969393224 |
| Dysgammaglobulinemia 3 3 -0.1160938511317717 0.9075781619496388 |
| Macular thickening 6 13 -0.1159721822786347 0.907674588333146 |
| Abnormal libido 7 7 -0.1141858178680123 0.9090904940755667 |
| Abnormal acetabulum morphology 10 34 -0.1138037772923497 0.909393344203662 |
| Aplasia of the phalanges of the hand 3 5 -0.1135437116146441 0.9095995102697654 |
| Intracellular accumulation of autofluorescent lipopigment storage material 1 5 -0.1101000060538036 0.9123300633574284 |
| Abnormal hand bone ossification 5 13 -0.1096656096313485 0.9126745754035605 |
| Hyperoxaluria 2 2 -0.1087662125493748 0.9133879232655044 |
| Abnormality of the tarsal bones 20 49 -0.1083522518960038 0.9137162755322286 |
| Atonic seizure 8 36 -0.1081209566888376 0.9138997445681408 |
| Dysmenorrhea 1 3 -0.1073166430088738 0.9145377815794328 |
| Overgrowth 3 10 -0.106517857605427 0.9151714876907452 |
| Type i transferrin isoform profile 4 15 -0.1057205215166908 0.9158040977815962 |
| Sideroblastic anemia 6 19 -0.1055396698401847 0.9159475937608909 |
| Neoplasm of the tracheobronchial system 5 5 -0.1052061824732927 0.9162122050459413 |
| Insulin resistant diabetes mellitus 2 12 -0.1046204442334404 0.9166769915790812 |
| Exodeviation 15 41 -0.104371874504664 0.9168742416513332 |
| Weak cry 2 14 -0.103251639881334 0.9177632561840388 |
| Tachypnea 10 33 -0.1019131139233867 0.9188256407568542 |
| Abnormal csf protein level 9 23 -0.0975810614122946 0.922264963528102 |
| Verrucae 2 5 -0.0975183641023898 0.9223147512903804 |
| Duplication of the distal phalanx of hand 3 3 -0.0967338442717493 0.922937762014187 |
| Papilledema 8 37 -0.0965933869609503 0.9230493083780784 |
| Abnormality of blood circulation 42 121 -0.0956395847371386 0.9238068252102032 |
| Hypoplastic aortic arch 1 5 -0.0947615476937816 0.9245042298763372 |
| Synostosis of carpal bones 2 7 -0.0937143054403609 0.9253361061925688 |
| Elevated circulating parathyroid hormone level 2 5 -0.0934589845668075 0.925538932603852 |
| Flat face 9 42 -0.0918953078076129 0.9267812195156164 |
| Abnormal morphology of the conjunctival vasculature 8 15 -0.0918802038211538 0.926793219983993 |
| Positional foot deformity 30 173 -0.0917541942617179 0.9268933381571928 |
| Aplasia hypoplasia involving the metacarpal bones 19 45 -0.0904957890576653 0.927893240070077 |
| Renal fanconi syndrome 5 5 -0.0900388491514279 0.9282563430300464 |
| Dyspareunia 6 6 -0.0897165132639407 0.9285124931746668 |
| Proportionate short stature 18 58 -0.0892928448355519 0.9288491803502672 |
| Abnormal circulating iga level 10 26 -0.0891744781306902 0.9289432480560772 |
| Abnormal cardiomyocyte morphology 2 4 -0.0888898916302917 0.9291694170611752 |
| Increased circulating androgen concentration 2 4 -0.0888209829255129 0.9292241816344682 |
| Nasogastric tube feeding 10 42 -0.087877377680503 0.9299741370267044 |
| Agyria 7 7 -0.0856638089118397 0.931733672638584 |
| Aplasia hypoplasia of the sacrum 1 4 -0.0852509361421793 0.9320618967497348 |
| Csf pleocytosis 4 8 -0.0846254627037251 0.9325591553666952 |
| Abnormality of the clitoris 8 37 -0.083859543496753 0.9331681058241016 |
| Breathing dysregulation 1 5 -0.0836103877609921 0.9333662076198124 |
| Abnormal proportion of class switched memory b cells 1 3 -0.0834386556002346 0.9335027529339835 |
| Narrow face 22 68 -0.0829490499104798 0.933892052204675 |
| Abnormality of the pineal gland 2 7 -0.0816560301574598 0.9349202443904272 |
| Neck flexor weakness 4 8 -0.081422968057339 0.9351055838837397 |
| Night sweats 2 4 -0.0794077719802457 0.9367082870182252 |
| Abnormal thrombosis 17 44 -0.0782662567310877 0.9376162583278204 |
| Basal ganglia calcification 3 14 -0.0772594142072785 0.93841717713295 |
| Ankle clonus 6 23 -0.0771165504197757 0.9385308268767004 |
| Narrow vertebral interpedicular distance 2 5 -0.0764805479915403 0.939036789097138 |
| Rotary nystagmus 1 6 -0.0764798058322446 0.9390373795252828 |
| Impaired antigen specific response 6 16 -0.0739614710731693 0.941041042886279 |
| Retinal coloboma 8 17 -0.0737415200190585 0.9412160605079188 |
| Abnormality of the 4th metacarpal 2 5 -0.0736785729625168 0.9412661487385244 |
| Abnormality of the antitragus 2 5 -0.0727015580721309 0.9420436086701228 |
| Paronychia 5 5 -0.0721369212612032 0.9424929438323078 |
| Hypercholesterolemia 8 21 -0.0677273832306045 0.946002650688362 |
| Atelectasis 4 19 -0.0675783083017002 0.946121323384466 |
| Zonular cataract 6 20 -0.0664609305078828 0.9470108618450654 |
| Moyamoya phenomenon 4 7 -0.0659835987446966 0.947390883300642 |
| Abnormality of the vestibulocochlear nerve 1 4 -0.065634124149963 0.9476691205341914 |
| Negativism 1 3 -0.0651502334708706 0.9480543848297264 |
| Abnormality of earlobe 17 47 -0.0645538463585479 0.9485292332854732 |
| Increased urinary non proteinogenic amino acid level 8 8 -0.0643721458090775 0.9486739084386906 |
| Abnormality of the achilles tendon 4 19 -0.0635399177116443 0.94933657370838 |
| Abnormal renal corticomedullary differentiation 1 3 -0.0631032308667625 0.9496843015691864 |
| T lymphocytopenia 2 16 -0.0630358404684786 0.9497379644920232 |
| Horizontal eyebrow 5 11 -0.0629184730584861 0.9498314246153168 |
| Generalized onset motor seizure 26 90 -0.0621663499105053 0.9504303595197136 |
| Recurrent skin infections 7 27 -0.0612049357603733 0.9511959989362602 |
| Nasogastric tube feeding in infancy 4 14 -0.0610696096352577 0.9513037719585776 |
| Abnormality of upper limb metaphysis 3 5 -0.0602581835943955 0.9519500060506982 |
| Posterior polar cataract 3 4 -0.0599484822250492 0.9521966660695472 |
| Gastroparesis 6 16 -0.0597402937607447 0.952362479247078 |
| Oromandibular dystonia 2 9 -0.0593444025141878 0.9526777953190588 |
| Parietal cortical atrophy 3 3 -0.0593148325285595 0.952701347266087 |
| Abnormal motor evoked potentials 3 3 -0.0593148325285595 0.952701347266087 |
| Recurrent pneumonia 8 31 -0.0591372790122086 0.9528427662282196 |
| Excessive salivation 11 52 -0.0585735604253705 0.9532917702394564 |
| Distal sensory impairment of all modalities 2 7 -0.0583821382443056 0.953444242118181 |
| Adrenocortical abnormality 2 5 -0.0581820662653021 0.9536036055678768 |
| Aplasia hypoplasia of the tongue 5 9 -0.0581622235668674 0.9536194109852114 |
| Macular purpura 8 26 -0.0570449970303579 0.9545093510291028 |
| Cerebellar cortical atrophy 4 4 -0.0563885970109403 0.9550322407696608 |
| Rectal fistula 5 10 -0.0560930285012114 0.9552676976462942 |
| Abnormality of cartilage of external ear 2 5 -0.0557357603503939 0.9555523111278912 |
| Recurrent upper and lower respiratory tract infections 1 3 -0.053367846042625 0.9574388238300326 |
| Short fourth metatarsal 4 4 -0.0530393559497181 0.9577005503155822 |
| Abnormality of the crus of the helix 1 4 -0.0520635040256332 0.9584780930754582 |
| Ureteral obstruction 5 13 -0.0513278565645607 0.9590642710264148 |
| Cerebellar malformation 22 104 -0.0512927393125846 0.9590922536797089 |
| Optic disc hypoplasia 4 9 -0.0491242856288011 0.9608202496355076 |
| Mesomelia 5 12 -0.0489850382394332 0.9609312193806024 |
| Pituitary hypothyroidism 5 11 -0.0486801615913393 0.9611741858856204 |
| U shaped upper lip vermilion 5 5 -0.0482636569390395 0.961506118343694 |
| Abnormal natural killer cell morphology 2 7 -0.0475719323469957 0.9620574014368888 |
| Reduced natural killer cell count 2 7 -0.0475719323469957 0.9620574014368888 |
| Facial erythema 4 4 -0.0469705529822343 0.962536696930975 |
| Dilation of lateral ventricles 9 41 -0.0468425322842257 0.9626387303593584 |
| Ventricular hypertrophy 23 65 -0.0452662943504731 0.9638950530982996 |
| Polyneuropathy 7 34 -0.0443721486154268 0.9646077619606196 |
| Mask like facies 7 22 -0.0435914577754623 0.9652300609343728 |
| Hypolipoproteinemia 3 11 -0.042757066116318 0.9658951889436992 |
| Tip toe gait 2 5 -0.0423982149613388 0.9661812513259204 |
| Defective dna repair after ultraviolet radiation damage 3 7 -0.0422347558675172 0.966311556093422 |
| Axonal degeneration 5 13 -0.0417034980334789 0.966735065361512 |
| Abnormal fallopian tube morphology 5 13 -0.0405630683699324 0.9676442270813724 |
| Cortical cataract 5 5 -0.0394190341564188 0.9685563046403785 |
| Hyperextensible skin 9 27 -0.0362832891369861 0.9710564745030208 |
| Abnormality of the coagulation cascade 17 65 -0.0362346681537564 0.9710952429417934 |
| Hyperreflexia in upper limbs 6 14 -0.0358044870662675 0.9714382552012556 |
| Generalized tonic seizure 7 28 -0.0355557859398863 0.9716365637190304 |
| Waddling gait 7 44 -0.0352239182670403 0.9719011900437996 |
| Multiple myeloma 1 3 -0.0341941449019556 0.9727223355037704 |
| Dry skin 25 57 -0.0340933060941732 0.9728027463466936 |
| Abnormal sharpey fiber morphology 7 11 -0.0339244387506534 0.9729374050968462 |
| Abnormal mitral valve physiology 23 68 -0.0339148472949924 0.9729450535700224 |
| Excessive wrinkling of palmar skin 1 4 -0.0336659065712737 0.9731435661673576 |
| Abnormality of the gingiva 24 78 -0.0325374362975405 0.9740434619760838 |
| Flattened femoral epiphysis 1 3 -0.0323218696979739 0.9742153688178996 |
| Visceral angiomatosis 3 5 -0.0294524668961192 0.9765037284000052 |
| Abnormality of the axillary hair 2 10 -0.0293672519396223 0.9765716907001164 |
| Synostosis of joints 18 58 -0.0290179289157757 0.9768502914080814 |
| Stooped posture 3 3 -0.0289904178357859 0.9768722328430852 |
| Deviation of toes 16 71 -0.0288052842626247 0.97701988639802 |
| Abnormal circulating glutamine family amino acid concentration 5 12 -0.0287799170074019 0.9770401181513716 |
| Thoracolumbar scoliosis 6 13 -0.0287299432969523 0.9770799749222684 |
| Amyloidosis 5 5 -0.0284903010923692 0.9772711034978504 |
| Sudden episodic apnea 2 6 -0.028160945619702 0.9775337857418208 |
| Hypochromia 1 3 -0.0275448949564808 0.9780251324202088 |
| Posterior subcapsular cataract 4 10 -0.0265448897328874 0.9788227293706168 |
| Abnormal vitreous humor morphology 5 15 -0.0255771906976747 0.979594579304024 |
| Upper limb spasticity 5 13 -0.0237696711701956 0.9810363321115096 |
| Muscle fiber tubular inclusions 4 7 -0.0234921251216995 0.981257719995537 |
| Anteverted ears 1 5 -0.0233324181453475 0.9813851128071054 |
| Coarse facial features 20 109 -0.0229015767983121 0.98172878262332 |
| Primary peritoneal carcinoma 4 10 -0.0222161928351161 0.9822755007640488 |
| Prostate neoplasm 5 14 -0.0202249565450918 0.9838639195115022 |
| Secundum atrial septal defect 2 7 -0.0183272135182714 0.9853778178620348 |
| Thoracic kyphosis 7 26 -0.0174037118416999 0.98611454798326 |
| Ventricular arrhythmia 10 64 -0.0170724305628346 0.986378832930543 |
| Large intestinal polyposis 7 19 -0.0163477945243904 0.986956928109398 |
| Abnormal vagina morphology 12 33 -0.0159897125564901 0.9872425988378728 |
| Generalized myoclonic seizure 20 69 -0.0157348218175438 0.9874459466386852 |
| Allergic rhinitis 1 3 -0.0150168478631981 0.9880187392468592 |
| Epidermal acanthosis 8 18 -0.0148914841429774 0.9881187538400318 |
| Aplasia hypoplasia of the ovary 10 24 -0.0148837085245296 0.988124957198446 |
| Abnormality of coagulation 22 99 -0.0115305373550901 0.9908001661250974 |
| Low set nipples 3 6 -0.0107975544488682 0.9913849654115794 |
| Cutis marmorata 10 29 -0.0107678163343385 0.99140869161471 |
| Abnormal cell morphology 5 11 -0.0107369922699154 0.991433284238144 |
| Pyelonephritis 1 3 -0.0093986531930137 0.9925010701277136 |
| Pointed chin 16 55 -0.0086633088684176 0.9930877660724218 |
| Abnormal renal medulla morphology 4 18 -0.0084617270102598 0.9932485992285244 |
| Neurofibrillary tangles 2 8 -0.0080349270200768 0.9935891247646504 |
| B lymphocytopenia 3 12 -0.0069543571400345 0.9944512705333042 |
| Parietal bossing 1 3 -0.0064140205760627 0.9948823870991874 |
| Aplasia hypoplasia of the capital femoral epiphysis 9 9 -0.0054728874718178 0.9956332893822172 |
| Hypoplastic fingernail 5 24 -0.0028505442235029 0.9977255978543296 |
| Anterior uveitis 1 4 -0.0013460659321206 0.9989259950992686 |
| Gait disturbance 152 531 0.0 1.0 |
| Thick lower lip vermilion 16 74 0.0 1.0 |
| Abnormality of the upper respiratory tract 38 168 0.0 1.0 |
| Abnormality of carpal bone ossification 4 11 0.0 1.0 |
| Renal cell carcinoma 10 41 0.0 1.0 |
| Abnormality of pelvic girdle bone morphology 72 244 0.0 1.0 |
| Bilateral tonic clonic seizure 26 138 0.0 1.0 |
| Vaginal fistula 5 13 0.0 1.0 |
| Abnormality of the diencephalon 50 51 0.0 1.0 |
| Abnormality of the skull base 17 99 0.0 1.0 |
| Abnormal proximal phalanx morphology of the hand 5 10 0.0 1.0 |
| Leukonychia 3 11 0.0 1.0 |
| Lambdoidal craniosynostosis 3 6 0.0 1.0 |
| Physical urticaria 1 3 0.0 1.0 |
| Cryptorchidism 90 330 0.0 1.0 |
| Ventriculomegaly 73 321 0.0 1.0 |
| Abnormal trabecular bone morphology 4 12 0.0 1.0 |
| Craniofacial hyperostosis 6 12 0.0 1.0 |
| Abnormal neural tube morphology 17 70 0.0 1.0 |
| Abnormality of lower lip 28 107 0.0 1.0 |
| Epiretinal membrane 2 5 0.0 1.0 |
| Beaking of vertebral bodies 4 17 0.0 1.0 |
| Oral pharyngeal dysphagia 4 22 0.0 1.0 |
| Epileptic encephalopathy 12 43 0.0 1.0 |
| Neoplasm of the eye 8 29 0.0 1.0 |
| Thickened calvaria 3 14 0.0 1.0 |
| Hammertoe 3 29 0.0 1.0 |
| Infectious encephalitis 6 17 0.0 1.0 |
| Motor delay 68 376 0.0 1.0 |
| Redundant neck skin 2 12 0.0 1.0 |
| Myotonia 5 13 0.0 1.0 |
| Submucous cleft of soft and hard palate 9 39 0.0 1.0 |
| Abnormal testis morphology 120 389 0.0 1.0 |
| Abnormal cerebral ventricle morphology 134 409 0.0 1.0 |
| Early onset of sexual maturation 22 72 0.0 1.0 |
| Abnormality of finger 103 483 0.0 1.0 |
| Increased body weight 55 178 0.0 1.0 |
| Retinal atrophy 10 45 0.0 1.0 |
| Multifocal epileptiform discharges 8 44 0.0 1.0 |
| Cognitive impairment 86 276 0.0 1.0 |
| Abnormality of the distal phalanges of the toes 2 9 0.0 1.0 |
| Abnormality of the elbow 32 101 0.0 1.0 |
| Abnormality of upper limb joint 56 195 0.0 1.0 |
| Limitation of knee mobility 6 11 0.0 1.0 |
| Neoplasm of the stomach 11 38 0.0 1.0 |
| Abnormality of the humeroradial joint 6 17 0.0 1.0 |
| Acanthocytosis 2 8 0.0 1.0 |
| Receptive language delay 6 30 0.0 1.0 |
| Intellectual disability severe 44 230 0.0 1.0 |
| Abnormal macrophage morphology 4 11 0.0 1.0 |
| Urinary incontinence 23 78 0.0 1.0 |
| Lower limb hyperreflexia 11 31 0.0 1.0 |
| Nocturia 2 5 0.0 1.0 |
| Neoplasm of the pituitary gland 8 27 0.0 1.0 |
| Abnormality of the bladder 66 204 0.0 1.0 |
| Cleft upper lip 16 55 0.0 1.0 |
| Abnormality of lower limb epiphysis morphology 10 29 0.0 1.0 |
| Abnormality of nail color 3 11 0.0 1.0 |
| Abnormal distal phalanx morphology of finger 22 80 0.0 1.0 |
| Impaired glucose tolerance 1 8 0.0 1.0 |
| Long foot 4 16 0.0 1.0 |
| Abnormal circulating methionine concentration 4 10 0.0 1.0 |
| Abnormal odontoid tissue morphology 27 74 0.0 1.0 |
| Triangular mouth 9 10 0.0 1.0 |
| Increased hepatocellular lipid droplets 1 3 0.0 1.0 |
| Small epiphyses 3 6 0.0 1.0 |
| Recurrent urinary tract infections 15 52 0.0 1.0 |
| Dysarthria 50 264 0.0 1.0 |
| Delayed fine motor development 3 15 0.0 1.0 |
| Hand clenching 12 14 0.0 1.0 |
| Abnormal aggressive impulsive or violent behavior 36 167 0.0 1.0 |
| Eeg with burst suppression 3 16 0.0 1.0 |
| Bilateral talipes equinovarus 2 9 0.0 1.0 |
| Abnormal circulating igm level 10 28 0.0 1.0 |
| Metrorrhagia 3 11 0.0 1.0 |
| Tapered finger 14 62 0.0 1.0 |
| Poor speech 30 148 0.0 1.0 |
| Abnormality of the lymphatic system 55 249 0.0 1.0 |
| Narrow palate 12 75 0.0 1.0 |
| Deviation of the hallux 11 52 0.0 1.0 |
| Aplasia hypoplasia involving the nose 20 50 0.0 1.0 |
| Abnormality of the thoracic cavity 7 22 0.0 1.0 |
| Heterochromia iridis 2 4 0.0 1.0 |
| Thoracolumbar kyphosis 3 10 0.0 1.0 |
| Dyskinesia 35 113 0.0 1.0 |
| Abnormal corpus callosum morphology 130 479 0.0 1.0 |
| Aplasia hypoplasia involving bones of the upper limbs 72 240 0.0 1.0 |
| Focal dystonia 13 39 0.0 1.0 |
| Excessive daytime somnolence 5 25 0.0 1.0 |
| Language impairment 83 470 0.0 1.0 |
| Hyperextensibility of the finger joints 7 7 0.0 1.0 |
| Abnormal morphology of the radius 9 24 0.0 1.0 |
| Abnormality of the hallux 19 91 0.0 1.0 |
| Gastrointestinal atresia 7 26 0.0 1.0 |
| Male hypogonadism 12 13 0.0 1.0 |
| Tented upper lip vermilion 4 35 0.0 1.0 |
| Genital neoplasm 18 69 0.0 1.0 |
| Impaired vibratory sensation 13 51 0.0 1.0 |
| Phimosis 1 7 0.0 1.0 |
| Abnormal greater sciatic notch morphology 3 9 0.0 1.0 |
| Weakness due to upper motor neuron dysfunction 65 238 0.0 1.0 |
| Acne 11 26 0.0 1.0 |
| Migraine 14 41 0.0 1.0 |
| Visual field defect 25 73 0.0 1.0 |
| Abnormality of the sense of smell 11 34 0.0 1.0 |
| Abnormality of globe location 80 459 0.0 1.0 |
| Abnormal labia morphology 6 28 0.0 1.0 |
| Abnormality of the curvature of the vertebral column 147 522 0.0 1.0 |
| Lymphoma 10 48 0.0 1.0 |
| Ectopic anus 3 25 0.0 1.0 |
| Abnormality of extrapyramidal motor function 33 122 0.0 1.0 |
| Abnormality of reproductive system physiology 81 240 0.0 1.0 |
| Apnea 23 131 0.0 1.0 |
| Abnormal circulating sulfur amino acid concentration 5 14 0.0 1.0 |
| Gonadoblastoma 3 3 0.0 1.0 |
| Emg slow motor conduction 1 4 0.0 1.0 |
| Abnormality of toe 86 300 0.0 1.0 |
| Annular pancreas 7 7 0.0 1.0 |
| Abnormality of female external genitalia 22 62 0.0 1.0 |
| Paraplegia paraparesis 27 129 0.0 1.0 |
| Cerebral visual impairment 36 106 0.0 1.0 |
| Intellectual disability mild 37 206 0.0 1.0 |
| Hernia 55 220 0.0 1.0 |
| Abnormal cortical gyration 39 212 0.0 1.0 |
| Supernumerary nipple 7 18 0.0 1.0 |
| Accessory spleen 3 12 0.0 1.0 |
| Abnormality of the spleen 39 197 0.0 1.0 |
| Simplified gyral pattern 14 51 0.0 1.0 |
| Axial dystonia 1 4 0.0 1.0 |
| Sepsis 6 33 0.0 1.0 |
| Long fingers 21 125 0.0 1.0 |
| Delayed epiphyseal ossification 6 6 0.0 1.0 |
| Hypogonadism 49 147 0.0 1.0 |
| Abnormal hand morphology 45 189 0.0 1.0 |
| Abnormality of lower limb joint 72 281 0.0 1.0 |
| Broad femoral neck 1 5 0.0 1.0 |
| Toe syndactyly 22 104 0.0 1.0 |
| Tall stature 22 92 0.0 1.0 |
| Contractures of the joints of the upper limbs 23 122 0.0 1.0 |
| Lymphocytosis 3 7 0.0 1.0 |
| Poor coordination 3 18 0.0 1.0 |
| Abnormality of the female genitalia 60 226 0.0 1.0 |
| Pituitary prolactin cell adenoma 2 4 0.0 1.0 |
| Hypsarrhythmia 24 96 0.0 1.0 |
| Aplasia hypoplasia of the phalanges of the hand 22 92 0.0 1.0 |
| Neoplasm of the small intestine 4 12 0.0 1.0 |
| Abnormal epiphysis morphology of the phalanges of the hand 5 15 0.0 1.0 |
| Hyporeflexia of lower limbs 3 16 0.0 1.0 |
| Abnormal sella turcica morphology 4 13 0.0 1.0 |
| Macroorchidism 1 8 0.0 1.0 |
| Wide mouth 23 103 0.0 1.0 |
| Long penis 2 4 0.0 1.0 |
| Abnormality of the dentition 106 365 0.0 1.0 |
| Abnormality of dental eruption 30 101 0.0 1.0 |
| Synovitis 1 4 0.0 1.0 |
| Duplicated collecting system 2 11 0.0 1.0 |
| Aplasia hypoplasia of the palmar creases 1 4 0.0 1.0 |
| Abnormality of the calvaria 114 435 0.0 1.0 |
| Abnormality of the hepatic vasculature 6 20 0.0 1.0 |
| Abnormality of thalamus morphology 30 30 0.0 1.0 |
| Neoplasm of striated muscle 3 15 0.0 1.0 |
| Abnormality of the cheek 34 99 0.0 1.0 |
| Aplasia hypoplasia of the extremities 83 318 0.0 1.0 |
| Dyspnea 44 164 0.0 1.0 |
| Abnormal cerebral cortex morphology 110 379 0.0 1.0 |
| Recurrent viral infections 8 23 0.0 1.0 |
| Acute encephalopathy 2 7 0.0 1.0 |
| Gonadal neoplasm 9 45 0.0 1.0 |
| Renal dysplasia 8 25 0.0 1.0 |
| Urinary tract neoplasm 20 66 0.0 1.0 |
| Abnormality of hair texture 18 86 0.0 1.0 |
| Abnormal uvula morphology 25 72 0.0 1.0 |
| Saccadic smooth pursuit 2 8 0.0 1.0 |
| Abnormal localization of kidney 20 101 0.0 1.0 |
| Progressive inability to walk 12 34 0.0 1.0 |
| Renal cyst 25 108 0.0 1.0 |
| Flat forehead 6 7 0.0 1.0 |
| Aplasia hypoplasia of the cerebellar vermis 24 120 0.0 1.0 |
| Hypoplasia of the corpus callosum 87 305 0.0 1.0 |
| Abnormality of the 2nd toe 4 18 0.0 1.0 |
| Abnormal finger phalanx morphology 64 293 0.0 1.0 |
| Slanting of the palpebral fissure 133 340 0.0 1.0 |
| J shaped sella turcica 2 6 0.0 1.0 |
| Synostosis of carpals tarsals 6 15 0.0 1.0 |
| Abnormal size of the palpebral fissures 29 146 0.0 1.0 |
| Abnormality of the pancreas 33 124 0.0 1.0 |
| Urogenital sinus anomaly 4 4 0.0 1.0 |
| Abnormality of the scrotum 16 75 0.0 1.0 |
| Macroglossia 10 54 0.0 1.0 |
| Neoplasm of fatty tissue 10 19 0.0 1.0 |
| Corneal erosion 2 7 0.0 1.0 |
| Neoplasm of the nervous system 20 83 0.0 1.0 |
| Abnormal tendon morphology 68 354 0.0 1.0 |
| Abnormal lip morphology 93 478 0.0 1.0 |
| Down sloping shoulders 9 41 0.0 1.0 |
| Aphasia 12 65 0.0 1.0 |
| Narrow mouth 23 122 0.0 1.0 |
| Abnormal anterior eye segment morphology 99 521 0.0 1.0 |
| Ectrodactyly 5 27 0.0 1.0 |
| Vasculitis 4 17 0.0 1.0 |
| Papule 6 32 0.0 1.0 |
| Diffuse cerebral atrophy 5 27 0.0 1.0 |
| Micropenis 32 105 0.0 1.0 |
| Aplasia hypoplasia involving the skeletal musculature 7 17 0.0 1.0 |
| Abnormal skin morphology of the palm 54 159 0.0 1.0 |
| Depressed nasal bridge 53 262 0.0 1.0 |
| Difficulty climbing stairs 10 26 0.0 1.0 |
| Abnormal sternal ossification 2 7 0.0 1.0 |
| Abnormal peripheral myelination 18 58 0.0 1.0 |
| Interictal eeg abnormality 34 138 0.0 1.0 |
| Abnormality of facial skeleton 121 542 0.0 1.0 |
| Abnormality of retinal pigmentation 23 126 0.0 1.0 |
| Abnormal visual fixation 3 12 0.0 1.0 |
| Abnormality of neuronal migration 46 245 0.0 1.0 |
| Shoulder girdle muscle weakness 4 22 0.0 1.0 |
| Abnormality of the nasolabial region 2 9 0.0 1.0 |
| Congenital onset 38 187 0.0 1.0 |
| Limb joint contracture 32 168 0.0 1.0 |
| Pharyngitis 5 6 0.0 1.0 |
| Poor motor coordination 3 22 0.0 1.0 |
| Enlarged cisterna magna 4 28 0.0 1.0 |
| Global brain atrophy 15 35 0.0 1.0 |
| Joint swelling 3 12 0.0 1.0 |
| Midface retrusion 32 136 0.0 1.0 |
| Abnormal cortical bone morphology 11 31 0.0 1.0 |
| Bronchospasm 2 8 0.0 1.0 |
| Abnormality of facial soft tissue 64 201 0.0 1.0 |
| Abnormal prostate morphology 5 15 0.0 1.0 |
| Increased blood urea nitrogen 3 5 0.0 1.0 |
| Abnormality of the periorbital region 29 111 0.0 1.0 |
| Motor seizure 46 171 0.0 1.0 |
| Central scotoma 2 16 0.0 1.0 |
| Abnormal vascular morphology 78 380 0.0 1.0 |
| Short digit 82 263 0.0 1.0 |
| Ophthalmoparesis 39 124 0.0 1.0 |
| Abnormal hair morphology 117 551 0.0 1.0 |
| Goiter 6 16 0.0 1.0 |
| Thoracic hypoplasia 14 51 0.0 1.0 |
| Intermittent diarrhea 1 12 0.0 1.0 |
| Eyelid myoclonus 3 14 0.0 1.0 |
| Retinal pigment epithelial mottling 4 4 0.0 1.0 |
| Optic disc coloboma 7 7 0.0 1.0 |
| Abnormality of the optic nerve 125 424 0.0 1.0 |
| Upslanted palpebral fissure 41 145 0.0 1.0 |
| Blepharophimosis 14 77 0.0 1.0 |
| Pigmentary retinopathy 11 73 0.0 1.0 |
| Hemorrhage of the eye 7 19 0.0 1.0 |
| Urinary glycosaminoglycan excretion 3 10 0.0 1.0 |
| Scotoma 4 21 0.0 1.0 |
| Laryngeal stenosis 3 6 0.0 1.0 |
| Abnormal t cell subset distribution 10 21 0.0 1.0 |
| Abnormal mean corpuscular hemoglobin concentration 1 5 0.0 1.0 |
| Abnormal pupillary function 4 13 0.0 1.0 |
| Hemoglobinuria 1 6 0.0 1.0 |
| Abnormality of central nervous system electrophysiology 62 255 0.0 1.0 |
| Arnold chiari malformation 7 37 0.0 1.0 |
| Generalized neonatal hypotonia 3 12 0.0 1.0 |
| Tetralogy of fallot 16 71 0.0 1.0 |
| Response to drugs acting on neuromuscular transmission 1 7 0.0 1.0 |
| Abnormal subcutaneous fat tissue distribution 3 6 0.0 1.0 |
| Reduced protein s activity 2 5 0.0 1.0 |
| Abnormal eyebrow morphology 67 274 0.0 1.0 |
| Bilateral single transverse palmar creases 5 24 0.0 1.0 |
| Chorioretinal atrophy 2 7 0.0 1.0 |
| Abnormal patella morphology 9 46 0.0 1.0 |
| Upper extremity joint dislocation 7 34 0.0 1.0 |
| Muscular ventricular septal defect 6 6 0.0 1.0 |
| Abnormal circulating gonadotropin concentration 6 22 0.0 1.0 |
| Abnormal dermatoglyphics 37 121 0.0 1.0 |
| Abnormality of the lens 64 351 0.0 1.0 |
| Nail dysplasia 17 52 0.0 1.0 |
| Abnormal joint morphology 106 442 0.0 1.0 |
| Rod cone dystrophy 15 71 0.0 1.0 |
| Microphallus 6 6 0.0 1.0 |
| Myopia 49 168 0.0 1.0 |
| 11 pairs of ribs 7 16 0.0 1.0 |
| Schistocytosis 2 6 0.0 1.0 |
| Central hypothyroidism 6 17 0.0 1.0 |
| Dysphonia 15 51 0.0 1.0 |
| Hip dysplasia 27 85 0.0 1.0 |
| Feeding difficulties in infancy 46 269 0.0 1.0 |
| Focal emotional seizure 4 14 0.0 1.0 |
| Abscess 4 16 0.0 1.0 |
| Color vision defect 3 24 0.0 1.0 |
| Pituitary growth hormone cell adenoma 2 6 0.0 1.0 |
| Single fiber emg abnormality 1 6 0.0 1.0 |
| Abnormal female reproductive system physiology 34 109 0.0 1.0 |
| Hypoplasia of the iris 4 11 0.0 1.0 |
| Disproportionate short limb short stature 10 35 0.0 1.0 |
| High pitched voice 5 22 0.0 1.0 |
| Joint hypermobility 45 164 0.0 1.0 |
| Reduced visual acuity 50 203 0.0 1.0 |
| Abnormal conjugate eye movement 157 516 0.0 1.0 |
| Postnatal growth retardation 27 104 0.0 1.0 |
| Clonus 10 55 0.0 1.0 |
| Clinodactyly 56 244 0.0 1.0 |
| Bundle branch block 3 21 0.0 1.0 |
| Abnormality of the endometrium 3 14 0.0 1.0 |
| Inflammation of the large intestine 22 22 0.0 1.0 |
| Large beaked nose 4 11 0.0 1.0 |
| Respiratory tract infection 63 253 0.0 1.0 |
| Abnormality of the pubic bone 7 15 0.0 1.0 |
| Recurrent respiratory infections 42 199 0.0 1.0 |
| Abnormal sternum morphology 48 186 0.0 1.0 |
| Ascending tubular aorta aneurysm 1 7 0.0 1.0 |
| Hepatosplenomegaly 16 64 0.0 1.0 |
| Ascites 13 44 0.0 1.0 |
| Oligodactyly 5 13 0.0 1.0 |
| Chronic fatigue 2 12 0.0 1.0 |
| Abnormality of the calf musculature 9 27 0.0 1.0 |
| Abnormality of the cervical spine 52 176 0.0 1.0 |
| Psychosis 13 50 0.0 1.0 |
| Delayed myelination 26 128 0.0 1.0 |
| Infantile spasms 12 49 0.0 1.0 |
| Thick vermilion border 23 134 0.0 1.0 |
| Abnormality of the ribs 38 110 0.0 1.0 |
| Decreased circulating level of specific antibody 5 13 0.0 1.0 |
| Ventricular septal hypertrophy 1 5 0.0 1.0 |
| Abnormal rib cage morphology 50 139 0.0 1.0 |
| Diarrhea 42 128 0.0 1.0 |
| Somatic mutation 25 79 0.0 1.0 |
| Primary hyperparathyroidism 2 5 0.0 1.0 |
| Vertebral segmentation defect 15 49 0.0 1.0 |
| Nephrolithiasis 9 37 0.0 1.0 |
| Death in infancy 20 99 0.0 1.0 |
| Axial muscle weakness 1 7 0.0 1.0 |
| Dilated fourth ventricle 13 71 0.0 1.0 |
| Short attention span 40 220 0.0 1.0 |
| Easy fatigability 8 37 0.0 1.0 |
| Arachnoid hemangiomatosis 4 12 0.0 1.0 |
| Stereotypy 22 119 0.0 1.0 |
| Abnormal muscle glycogen content 1 7 0.0 1.0 |
| Autistic behavior 52 307 0.0 1.0 |
| Onion bulb formation 14 16 0.0 1.0 |
| Abnormal hypothalamus physiology 5 12 0.0 1.0 |
| Abnormality of the vertebral endplates 11 11 0.0 1.0 |
| Paresthesia 12 39 0.0 1.0 |
| Generalized onset seizure 43 167 0.0 1.0 |
| Abnormal femoral head morphology 12 34 0.0 1.0 |
| Abnormal thorax morphology 109 378 0.0 1.0 |
| Abnormal glycosylation 9 38 0.0 1.0 |
| Abnormal protein glycosylation 6 31 0.0 1.0 |
| Abnormal femoral neck head morphology 23 76 0.0 1.0 |
| Abnormal enchondral ossification 17 50 0.0 1.0 |
| Abnormal hair laboratory examination 6 13 0.0 1.0 |
| Autism 29 82 0.0 1.0 |
| Abnormal renal morphology 126 428 0.0 1.0 |
| Delayed eruption of teeth 25 82 0.0 1.0 |
| Lower limb pain 2 8 0.0 1.0 |
| Facial cleft 1 7 0.0 1.0 |
| Anorectal anomaly 38 125 0.0 1.0 |
| Ketotic hypoglycemia 1 4 0.0 1.0 |
| Bilateral cryptorchidism 6 16 0.0 1.0 |
| Optic atrophy 96 317 0.0 1.0 |
| Abdominal obesity 3 9 0.0 1.0 |
| Short palpebral fissure 13 47 0.0 1.0 |
| Sclerocornea 7 18 0.0 1.0 |
| Ragged red muscle fibers 6 30 0.0 1.0 |
| Apraxia 18 104 0.0 1.0 |
| Thoracic aortic aneurysm 16 58 0.0 1.0 |
| Short nose 31 153 0.0 1.0 |
| Segmental peripheral demyelination remyelination 8 9 0.0 1.0 |
| Abnormality of the palpebral fissures 148 389 0.0 1.0 |
| Abnormal intestine morphology 60 321 0.0 1.0 |
| Decreased testicular size 14 38 0.0 1.0 |
| Emg axonal abnormality 5 5 0.0 1.0 |
| Adrenal insufficiency 15 46 0.0 1.0 |
| Abnormality of the small intestine 23 88 0.0 1.0 |
| Hypoplasia of penis 54 172 0.0 1.0 |
| Abnormal labia majora morphology 4 18 0.0 1.0 |
| Lipoma 2 11 0.0 1.0 |
| Aplasia hypoplasia affecting the fundus 14 47 0.0 1.0 |
| Aplasia hypoplasia of the optic nerve 8 39 0.0 1.0 |
| Abnormality of the thyroid gland 47 178 0.0 1.0 |
| Delayed gross motor development 33 175 0.0 1.0 |
| Hip contracture 3 18 0.0 1.0 |
| Dysesthesia 8 9 0.0 1.0 |
| Large forehead 2 9 0.0 1.0 |
| Abnormal involuntary eye movements 132 482 0.0 1.0 |
| Absent thumbnail 1 6 0.0 1.0 |
| Esophageal atresia 6 12 0.0 1.0 |
| Abnormal umbilicus morphology 28 106 0.0 1.0 |
| Abnormality of dna repair 5 9 0.0 1.0 |
| Dilatation of the cerebral artery 6 17 0.0 1.0 |
| Nyctalopia 19 53 0.0 1.0 |
| External genital hypoplasia 70 211 0.0 1.0 |
| Abnormal external genitalia 121 486 0.0 1.0 |
| Oculomotor apraxia 8 41 0.0 1.0 |
| Neoplasm of the skin 21 76 0.0 1.0 |
| Ectropion 7 20 0.0 1.0 |
| Abnormally lax or hyperextensible skin 22 72 0.0 1.0 |
| Elevated circulating long chain fatty acid concentration 2 5 0.0 1.0 |
| Abnormal facial shape 154 511 0.0 1.0 |
| Intellectual disability profound 16 77 0.0 1.0 |
| Woolly hair 3 10 0.0 1.0 |
| Optic nerve hypoplasia 7 32 0.0 1.0 |
| Third degree atrioventricular block 1 4 0.0 1.0 |
| Visual impairment 90 476 0.0 1.0 |
| Cytochrome c oxidase negative muscle fibers 5 14 0.0 1.0 |
| Increased blood pressure 32 125 0.0 1.0 |
| Supernumerary bones of the axial skeleton 4 9 0.0 1.0 |
| Alkalosis 3 8 0.0 1.0 |
| Short philtrum 19 105 0.0 1.0 |
| Intestinal atresia 5 17 0.0 1.0 |
| Sinus bradycardia 1 4 0.0 1.0 |
| Epileptic spasm 17 99 0.0 1.0 |
| Genu valgum 16 61 0.0 1.0 |
| Lissencephaly 17 91 0.0 1.0 |
| Abnormal immune system morphology 68 264 0.0 1.0 |
| Hypertelorism 69 347 0.0 1.0 |
| Tonic seizure 9 38 0.0 1.0 |
| Myoclonic seizure 22 88 0.0 1.0 |
| Demyelinating peripheral neuropathy 13 30 0.0 1.0 |
| Abnormal b cell morphology 4 17 0.0 1.0 |
| Abnormality of facial musculature 41 136 0.0 1.0 |
| Abnormality of dental color 2 5 0.0 1.0 |
| Hirsutism 20 95 0.0 1.0 |
| Abnormal t cell morphology 4 26 0.0 1.0 |
| Abnormality of the forehead 95 511 0.0 1.0 |
| Abnormality of the midface 75 257 0.0 1.0 |
| Intellectual disability moderate 18 121 0.0 1.0 |
| Abnormal metabolism 22 81 0.0 1.0 |
| Abnormality of skin pigmentation 53 224 0.0 1.0 |
| Abnormality of the outer ear 170 560 0.0 1.0 |
| Widow s peak 2 6 0.0 1.0 |
| Spastic paraparetic gait 7 8 0.0 1.0 |
| Diffuse white matter abnormalities 5 16 0.0 1.0 |
| Diminished ability to concentrate 1 6 0.0 1.0 |
| Aplasia hypoplasia involving the skeleton 115 512 0.0 1.0 |
| High forehead 27 154 0.0 1.0 |
| Hypophosphatemia 10 11 0.0 1.0 |
| Aplasia hypoplasia affecting bones of the axial skeleton 89 401 0.0 1.0 |
| Abnormal tissue metabolite concentration 6 26 0.0 1.0 |
| Broad forehead 18 67 0.0 1.0 |
| Motor polyneuropathy 3 18 0.0 1.0 |
| Abnormal epiglottis morphology 2 7 0.0 1.0 |
| Mixed hypo and hyperpigmentation of the skin 3 7 0.0 1.0 |
| Spastic gait 11 42 0.0 1.0 |
| Abnormal cerebellar vermis morphology 28 138 0.0 1.0 |
| Upper limb amyotrophy 4 23 0.0 1.0 |
| Unusual infection by anatomical site 3 24 0.0 1.0 |
| Abnormal epidermal morphology 6 31 0.0 1.0 |
| Abnormality of the nasal dorsum 32 92 0.0 1.0 |
| Unusual infection 86 341 0.0 1.0 |
| Hypopigmentation of the skin 26 84 0.0 1.0 |
| Myoclonus 49 164 0.0 1.0 |
| Abnormality of the helix 19 63 0.0 1.0 |
| Abnormal prolactin level 4 9 0.0 1.0 |
| Thin vermilion border 51 216 0.0 1.0 |
| Memory impairment 22 64 0.0 1.0 |
| Episodic ataxia 1 7 0.0 1.0 |
| Abnormality of the abdominal wall 54 200 0.0 1.0 |
| Poikiloderma 9 9 0.0 1.0 |
| Functional motor deficit 42 239 0.0 1.0 |
| Abnormal serum iron concentration 3 7 0.0 1.0 |
| Abnormal tracheal morphology 18 61 0.0 1.0 |
| Abnormality of the fontanelles or cranial sutures 62 183 0.0 1.0 |
| Abnormal sensory nerve conduction velocity 8 10 0.0 1.0 |
| Involuntary movements 93 539 0.0 1.0 |
| Difficulty walking 40 135 0.0 1.0 |
| Polymicrogyria 21 121 0.0 1.0 |
| Abnormality of the external nose 137 403 0.0 1.0 |
| Abnormality of hair growth 4 10 0.0 1.0 |
| Abnormality of the lower urinary tract 91 365 0.0 1.0 |
| Increased head circumference 74 211 0.0 1.0 |
| Velopharyngeal insufficiency 8 8 0.0 1.0 |
| Mild microcephaly 2 9 0.0 1.0 |
| Abnormal circulating ferritin concentration 3 11 0.0 1.0 |
| Small anterior fontanelle 2 4 0.0 1.0 |
| Hypopituitarism 19 57 0.0 1.0 |
| Abnormality of lipoprotein cholesterol concentration 4 22 0.0 1.0 |
| Abnormal circulating non proteinogenic amino acid concentration 2 11 0.0 1.0 |
| Abnormal renal echogenicity 2 4 0.0 1.0 |
| Abnormal circulating ceruloplasmin concentration 3 6 0.0 1.0 |
| Abnormal renal collecting system morphology 2 12 0.0 1.0 |
| Focal white matter lesions 3 12 0.0 1.0 |
| Small face 23 73 0.0 1.0 |
| Tube feeding 31 113 0.0 1.0 |
| Arthralgia 18 59 0.0 1.0 |
| Microcytic anemia 5 15 0.0 1.0 |
| Specific learning disability 37 115 0.0 1.0 |
| Abnormality of circulating enzyme level 30 156 0.0 1.0 |
| Abnormal palmar dermatoglyphics 31 99 0.0 1.0 |
| Abnormality of femur morphology 31 114 0.0 1.0 |
| Abnormal systemic arterial morphology 55 229 0.0 1.0 |
| Attention deficit hyperactivity disorder 31 160 0.0 1.0 |
| Cerebellar hypoplasia 40 208 0.0 1.0 |
| Abnormal pattern of respiration 51 289 0.0 1.0 |
| Abnormality of the cerebral subcortex 169 612 0.0 1.0 |
| Abnormal nervous system electrophysiology 55 306 0.0 1.0 |
| Brachycephaly 25 110 0.0 1.0 |
| Hyperlipoproteinemia 3 16 0.0 1.0 |
| Posteriorly rotated ears 56 184 0.0 1.0 |
| Abnormality of the wrist 21 55 0.0 1.0 |
| Delayed ability to walk 18 106 0.0 1.0 |
| Lower limb spasticity 38 135 0.0 1.0 |
| Abnormal diaphysis morphology 31 119 0.0 1.0 |
| Dysostosis multiplex 3 13 0.0 1.0 |
| Atrophy degeneration affecting the cerebrum 104 401 0.0 1.0 |
| Atrophy degeneration affecting the central nervous system 123 498 0.0 1.0 |
| Neck muscle weakness 5 26 0.0 1.0 |
| Abnormality of the neck 48 277 0.0 1.0 |
| Atrophy degeneration affecting the brainstem 4 20 0.0 1.0 |
| Abnormal pons morphology 7 38 0.0 1.0 |
| Autoimmunity 16 55 0.0 1.0 |
| Abnormality of humoral immunity 31 96 0.0 1.0 |
| Aplasia hypoplasia of the cerebellum 47 234 0.0 1.0 |
| Abnormality of cardiovascular system electrophysiology 60 189 0.0 1.0 |
| Abnormal morphology of the great vessels 75 297 0.0 1.0 |
| Unsteady gait 27 83 0.0 1.0 |
| Abnormal cardiac septum morphology 84 340 0.0 1.0 |
| Single transverse palmar crease 25 76 0.0 1.0 |
| Difficulty running 4 22 0.0 1.0 |
| Increased muscle glycogen content 1 5 0.0 1.0 |
| Abnormal ovarian morphology 16 49 0.0 1.0 |
| Distal lower limb muscle weakness 5 29 0.0 1.0 |
| Anosmia 8 8 0.0 1.0 |
| Abnormal humerus morphology 1 4 0.0 1.0 |
| Abnormal retinal morphology 116 371 0.0 1.0 |
| Abnormal cornea morphology 51 264 0.0 1.0 |
| Missing ribs 7 20 0.0 1.0 |
| Platyspondyly 21 57 0.0 1.0 |
| Multiple mitochondrial dna deletions 2 5 0.0 1.0 |
| Skeletal muscle hypertrophy 19 73 0.0 1.0 |
| Gastrostomy tube feeding in infancy 10 57 0.0 1.0 |
| Breast carcinoma 15 40 0.0 1.0 |
| Abnormality of the ulna 18 62 0.0 1.0 |
| Abnormality of the calf 34 106 0.0 1.0 |
| Muscle hypertrophy of the lower extremities 5 15 0.0 1.0 |
| Abnormality of the forearm 30 86 0.0 1.0 |
| Downslanted palpebral fissures 49 244 0.0 1.0 |
| Abnormal eyelid morphology 98 580 0.0 1.0 |
| Keratitis 7 19 0.0 1.0 |
| Abnormal jaw morphology 96 480 0.0 1.0 |
| Myopathic facies 6 12 0.0 1.0 |
| Abnormal choroid plexus morphology 2 10 0.0 1.0 |
| Exercise induced muscle fatigue 2 5 0.0 1.0 |
| Bowing of the legs 24 90 0.0 1.0 |
| Retinopathy 12 48 0.0 1.0 |
| Microcornea 17 49 0.0 1.0 |
| Myofibrillar myopathy 7 7 0.0 1.0 |
| Prominent nose 14 39 0.0 1.0 |
| Convex nasal ridge 13 38 0.0 1.0 |
| Abnormality of the nasal tip 35 168 0.0 1.0 |
| Otitis media 15 90 0.0 1.0 |
| Abnormality of hindbrain morphology 115 466 0.0 1.0 |
| Pili torti 3 5 0.0 1.0 |
| Abnormal qt interval 6 16 0.0 1.0 |
| Cerebral dysmyelination 3 11 0.0 1.0 |
| Vascular skin abnormality 65 201 0.0 1.0 |
| Abnormality of periauricular region 5 34 0.0 1.0 |
| Impaired tandem gait 6 29 0.0 1.0 |
| Abnormal atrioventricular valve physiology 29 86 0.0 1.0 |
| Chronic otitis media 8 43 0.0 1.0 |
| Abnormal aortic valve physiology 11 65 0.0 1.0 |
| Enlarged posterior fossa 14 86 0.0 1.0 |
| Lower limb amyotrophy 8 31 0.0 1.0 |
| Gastrointestinal obstruction 8 25 0.0 1.0 |
| Prominent forehead 26 125 0.0 1.0 |
| Medulloblastoma 2 11 0.0 1.0 |
| Inappropriate laughter 3 12 0.0 1.0 |
| Abnormal shape of the frontal region 66 182 0.0 1.0 |
| Hyperreflexia 107 381 0.0 1.0 |
| Abnormal ldl cholesterol concentration 4 20 0.0 1.0 |
| Bruising susceptibility 9 51 0.0 1.0 |
| Abnormality of long bone morphology 84 310 0.0 1.0 |
| Macrotia 26 138 0.0 1.0 |
| Cutis laxa 8 52 0.0 1.0 |
| Lumbar hyperlordosis 6 31 0.0 1.0 |
| Wide nasal bridge 54 259 0.0 1.0 |
| Hyperkeratosis 29 100 0.0 1.0 |
| Abnormality of the nasal alae 100 293 0.0 1.0 |
| Hypoplasia of the frontal lobes 7 17 0.0 1.0 |
| Abnormal nasal bridge morphology 95 452 0.0 1.0 |
| Abnormality of thyroid physiology 38 132 0.0 1.0 |
| Regional abnormality of skin 73 227 0.0 1.0 |
| Rheumatoid factor positive 2 6 0.0 1.0 |
| Hypohidrosis 2 15 0.0 1.0 |
| Abnormality of the cerebrospinal fluid 78 244 0.0 1.0 |
| Severe global developmental delay 35 118 0.0 1.0 |
| Decreased proportion of cd4 positive helper t cells 10 11 0.0 1.0 |
| Ketonuria 4 18 0.0 1.0 |
| Abnormal cell proliferation 3 7 0.0 1.0 |
| Abnormality of upper lip vermillion 47 202 0.0 1.0 |
| Sporadic 8 43 0.0 1.0 |
| Abnormality of mouth size 44 208 0.0 1.0 |
| Abnormality of chromosome segregation 2 8 0.0 1.0 |
| Abnormality of cranial sutures 43 143 0.0 1.0 |
| Mixed hearing impairment 5 13 0.0 1.0 |
| Abnormal cranial nerve physiology 41 126 0.0 1.0 |
| Increased circulating igm level 11 13 0.0 1.0 |
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