| {"0": "Disproportionate short stature", "1": "Abnormal circulating cholesterol concentration", "2": "Disproportionate short limb short stature", "3": "Horizontal nystagmus", "4": "Abnormal epiphyseal ossification", "5": "Ascites", "6": "Bone pain", "7": "Rhizomelia", "8": "Schizophrenia", "9": "Abnormal biliary tract morphology", "10": "Abnormal retinal artery morphology", "11": "Toe walking", "12": "Abnormality of head blood vessel", "13": "Dysdiadochokinesis", "14": "Epiphyseal stippling", "15": "Increased bone mineral density", "16": "Cherry red spot of the macula", "17": "Bulbar signs", "18": "Dementia", "19": "Hypocholesterolemia", "20": "Arteriosclerosis", "21": "Neuronal loss in central nervous system", "22": "Muscle stiffness", "23": "Hyperlipidemia", "24": "Skin nodule", "25": "Juvenile onset", "26": "Biliary tract abnormality", "27": "Hepatic failure", "28": "Postural tremor", "29": "Subcutaneous nodule", "30": "Abnormal enchondral ossification", "31": "Abnormal circulating long chain fatty acid concentration", "32": "Centrally nucleated skeletal muscle fibers", "33": "Ichthyosis", "34": "Underdeveloped supraorbital ridges", "35": "Progressive neurologic deterioration", "36": "Abnormality of the supraorbital ridges", "37": "Abnormality of glycolipid metabolism", "38": "Abnormal tissue metabolite concentration", "39": "Elevated pulmonary artery pressure", "40": "Fasciculations", "41": "Corneal opacity", "42": "Psychomotor deterioration", "43": "Abnormality of the wrist", "44": "Abnormal circulating fatty acid concentration", "45": "Hypopigmented skin patches", "46": "Supranuclear gaze palsy", "47": "Cerebral inclusion bodies", "48": "Polyneuropathy", "49": "Arthritis"} |