| {"0": "Lissencephaly", "1": "Polyhydramnios", "2": "Abnormal activity of mitochondrial respiratory chain", "3": "Abnormal circulating nitrogen compound concentration", "4": "Abnormal caudate nucleus morphology", "5": "Abnormal brain lactate level by mrs", "6": "Abnormal nipple morphology", "7": "Large for gestational age", "8": "Renal dysplasia", "9": "Proximal amyotrophy", "10": "Apnea", "11": "Abnormal muscle fiber morphology", "12": "Rhizomelia", "13": "Abnormal renal pelvis morphology", "14": "Agenesis of corpus callosum", "15": "Abnormally folded helix", "16": "Abnormality of earlobe", "17": "Retinal vascular tortuosity", "18": "Round face", "19": "Abnormal vagina morphology", "20": "Abnormality of the ureter", "21": "Abnormal morphology of the abdominal musculature", "22": "Disproportionate short limb short stature", "23": "Decreased activity of mitochondrial complex i", "24": "Aganglionic megacolon", "25": "Leukodystrophy", "26": "Polycystic kidney dysplasia", "27": "Abnormal csf metabolite level", "28": "Renal cyst", "29": "Metabolic acidosis", "30": "Dolichocephaly", "31": "Prenatal movement abnormality", "32": "Cerebral hypoplasia", "33": "Hyperammonemia", "34": "Tetraplegia", "35": "Arrhinencephaly", "36": "Motor axonal neuropathy", "37": "Sloping forehead", "38": "Wormian bones", "39": "Melanocytic nevus", "40": "Abnormal ureter morphology", "41": "Autism", "42": "Aphasia", "43": "Increased csf lactate", "44": "Abnormality of the uterus", "45": "Specific learning disability", "46": "Wide intermamillary distance", "47": "Ambiguous genitalia", "48": "Variable expressivity", "49": "Aplasia hypoplasia of the phalanges of the hand"} |