| {"0": "Mental deterioration", "1": "Cognitive impairment", "2": "Dementia", "3": "Abnormal tissue metabolite concentration", "4": "Abnormal circulating lipid concentration", "5": "Cherry red spot of the macula", "6": "Ectrodactyly", "7": "Ascites", "8": "Arteriosclerosis", "9": "Hyperlipidemia", "10": "Abnormal circulating cholesterol concentration", "11": "Polyneuropathy", "12": "Ectopic calcification", "13": "Aplasia hypoplasia involving the vertebral column", "14": "Bruising susceptibility", "15": "Abnormality of the lymphatic system", "16": "Neuronal loss in central nervous system", "17": "Abnormality of the spleen", "18": "Scrotal hypoplasia", "19": "Hallucinations", "20": "Diminished movement", "21": "Action tremor", "22": "Disproportionate short stature", "23": "Splenomegaly", "24": "Epiphyseal stippling", "25": "Corneal opacity", "26": "Abnormality of the metacarpal bones", "27": "Fasciculations", "28": "Abdominal pain", "29": "Abnormal epiphyseal ossification", "30": "Abnormal retinal artery morphology", "31": "Disproportionate short limb short stature", "32": "Abnormal elasticity of skin", "33": "Hepatic failure", "34": "Supranuclear gaze palsy", "35": "Arthritis", "36": "Hypocholesterolemia", "37": "Cachexia", "38": "Thickened skin", "39": "Biliary tract abnormality", "40": "Abnormality of subcutaneous fat tissue", "41": "Abnormality of head blood vessel", "42": "Hypertriglyceridemia", "43": "Abnormal pulmonary interstitial morphology", "44": "Focal segmental glomerulosclerosis", "45": "Rhizomelia", "46": "Abdominal distention", "47": "Muscle stiffness", "48": "Diffuse mesangial sclerosis", "49": "Abnormal biliary tract morphology"} |