| {"0": "Dementia", "1": "Abnormality of hepatobiliary system physiology", "2": "Hepatic failure", "3": "Mental deterioration", "4": "Abnormal circulating lipid concentration", "5": "Corneal opacity", "6": "Abnormal retinal artery morphology", "7": "Abnormality of head blood vessel", "8": "Bulbar signs", "9": "Horizontal nystagmus", "10": "Respiratory distress", "11": "Visual loss", "12": "Increased bone mineral density", "13": "Abnormality of epiphysis morphology", "14": "Abnormal epiphyseal ossification", "15": "Abnormal vascular physiology", "16": "Epiphyseal stippling", "17": "Myoclonic seizure", "18": "Abnormality of corneal stroma", "19": "Disproportionate short stature", "20": "Abnormality of extrapyramidal motor function", "21": "Myoclonus", "22": "Cherry red spot of the macula", "23": "Severe short stature", "24": "Generalized myoclonic seizure", "25": "Cachexia", "26": "Posterior embryotoxon", "27": "Abnormal tissue metabolite concentration", "28": "Abnormality of femur morphology", "29": "Juvenile onset", "30": "Abnormal heart valve morphology", "31": "Ascites", "32": "Variable expressivity", "33": "Abnormality of the metacarpal bones", "34": "Abnormal circulating cholesterol concentration", "35": "Abnormal enchondral ossification", "36": "Abnormal arterial physiology", "37": "Abnormal protein glycosylation", "38": "Proportionate short stature", "39": "Ectopic calcification", "40": "Aplasia hypoplasia of the femur", "41": "Abnormality of pulmonary circulation", "42": "Aplasia hypoplasia involving the pelvis", "43": "Irritability", "44": "Morphological abnormality of the pyramidal tract", "45": "Respiratory failure", "46": "Wormian bones", "47": "Pathologic fracture", "48": "Dysmetria", "49": "Chronic diarrhea"} |