| {"0": "Biliary tract abnormality", "1": "Abnormal biliary tract morphology", "2": "Dementia", "3": "Mental deterioration", "4": "Abnormal circulating lipid concentration", "5": "Abnormality of femur morphology", "6": "Clumsiness", "7": "Left ventricular hypertrophy", "8": "Abnormal retinal artery morphology", "9": "Poor head control", "10": "Corneal opacity", "11": "Toe walking", "12": "Ventricular hypertrophy", "13": "Increased bone mineral density", "14": "Bulbar signs", "15": "Abnormal left ventricle morphology", "16": "Horizontal nystagmus", "17": "Abnormality of hepatobiliary system physiology", "18": "Hyperintensity of cerebral white matter on mri", "19": "Abnormalities of placenta or umbilical cord", "20": "Sensorimotor neuropathy", "21": "Abnormal tissue metabolite concentration", "22": "Osteoarthritis", "23": "Abnormality of extrapyramidal motor function", "24": "Abnormal peripheral nervous system physiology", "25": "Impaired proprioception", "26": "Ectopic calcification", "27": "Cherry red spot of the macula", "28": "Peripheral demyelination", "29": "Decreased absent ankle reflexes", "30": "Delusions", "31": "Cns demyelination", "32": "Optic disc pallor", "33": "Progressive neurologic deterioration", "34": "Ragged red muscle fibers", "35": "Elevated pulmonary artery pressure", "36": "Supranuclear gaze palsy", "37": "Impaired vibratory sensation", "38": "Progressive psychomotor deterioration", "39": "Variable expressivity", "40": "Ascites", "41": "Aortic valve stenosis", "42": "Hypocholesterolemia", "43": "Abnormal circulating cholesterol concentration", "44": "Respiratory distress", "45": "Abnormality of glycolipid metabolism", "46": "Abnormal csf protein level", "47": "Mania", "48": "Abnormality of head blood vessel", "49": "Schizophrenia"} |