| {"0": "Dementia", "1": "Mental deterioration", "2": "Biliary tract abnormality", "3": "Abnormal biliary tract morphology", "4": "Abnormality of alkaline phosphatase level", "5": "Migraine", "6": "Bulbar signs", "7": "Abnormality of corneal stroma", "8": "Osteoarthritis", "9": "Pathologic fracture", "10": "Action tremor", "11": "Abnormal circulating cholesterol concentration", "12": "Myoclonus", "13": "Limb ataxia", "14": "Abnormality of extrapyramidal motor function", "15": "Arteriosclerosis", "16": "Ambiguous genitalia", "17": "Variable expressivity", "18": "Increased bone mineral density", "19": "Elevated pulmonary artery pressure", "20": "Abnormality of pulmonary circulation", "21": "Duplication involving bones of the feet", "22": "Parkinsonism", "23": "Arthritis", "24": "Cerebral inclusion bodies", "25": "Ectrodactyly", "26": "Abnormal pharynx morphology", "27": "Disproportionate short stature", "28": "Bruising susceptibility", "29": "Increased intracranial pressure", "30": "Cherry red spot of the macula", "31": "Abnormality of head blood vessel", "32": "Abnormal vascular physiology", "33": "Corneal opacity", "34": "Increased serum pyruvate", "35": "Disproportionate short limb short stature", "36": "Abnormal circulating lipid concentration", "37": "Abnormal retinal artery morphology", "38": "Muscle stiffness", "39": "Muscle abnormality related to mitochondrial dysfunction", "40": "Subcutaneous hemorrhage", "41": "Abnormal metabolic brain imaging by mrs", "42": "Pulmonary hypoplasia", "43": "Abnormal delivery", "44": "Rigidity", "45": "Mucosal telangiectasiae", "46": "Dermal atrophy", "47": "Abnormal autonomic nervous system physiology", "48": "Preaxial polydactyly", "49": "Ectopic calcification"} |