| {"0": "Sloping forehead", "1": "Aganglionic megacolon", "2": "Progressive visual loss", "3": "Duplication involving bones of the feet", "4": "Hand polydactyly", "5": "Corneal opacity", "6": "Vascular skin abnormality", "7": "Abnormal renal pelvis morphology", "8": "Biliary tract abnormality", "9": "Abnormality of the amniotic fluid", "10": "Inability to walk", "11": "Increased bone mineral density", "12": "Abnormal cortical bone morphology", "13": "Abnormality of the ureter", "14": "Abnormal cardiac ventricular function", "15": "Abnormal dermatoglyphics", "16": "Intestinal malrotation", "17": "Hydrocephalus", "18": "Polydactyly", "19": "Gait ataxia", "20": "Dolichocephaly", "21": "Cerebral hypoplasia", "22": "Capillary hemangioma", "23": "Areflexia of lower limbs", "24": "Abnormal cornea morphology", "25": "Unilateral renal agenesis", "26": "Abnormal circulating lipid concentration", "27": "Metatarsus adductus", "28": "Action tremor", "29": "Bruising susceptibility", "30": "Abnormality of toe", "31": "Postural tremor", "32": "Finger syndactyly", "33": "Abnormal lung lobation", "34": "Abnormal biliary tract morphology", "35": "Abnormal talus morphology", "36": "Limb ataxia", "37": "Visual loss", "38": "Aplasia hypoplasia affecting bones of the axial skeleton", "39": "Myoclonus", "40": "Ragged red muscle fibers", "41": "Subcutaneous hemorrhage", "42": "Ambiguous genitalia", "43": "Abnormal palmar dermatoglyphics", "44": "Arthritis", "45": "Knee flexion contracture", "46": "Gray matter heterotopia", "47": "Abnormal bone structure", "48": "Micropenis", "49": "Abnormality of head blood vessel"} |