| {"0": "Vascular skin abnormality", "1": "Generalized onset seizure", "2": "Abnormal circulating lipid concentration", "3": "Abnormality of head blood vessel", "4": "Mental deterioration", "5": "Incoordination", "6": "Cognitive impairment", "7": "Abnormal circulating cholesterol concentration", "8": "Abnormal conjunctiva morphology", "9": "Abnormal retinal artery morphology", "10": "Hallucinations", "11": "Corneal opacity", "12": "Proportionate short stature", "13": "Abnormality of extrapyramidal motor function", "14": "Abnormal bone structure", "15": "Abnormality of the biliary system", "16": "Abnormality of femur morphology", "17": "Motor seizure", "18": "Skin nodule", "19": "Hepatosplenomegaly", "20": "Generalized myoclonic seizure", "21": "Cherry red spot of the macula", "22": "Splenomegaly", "23": "Clumsiness", "24": "Abnormality of the gingiva", "25": "Horizontal nystagmus", "26": "Myoclonic seizure", "27": "Subcutaneous nodule", "28": "Abnormal mitral valve physiology", "29": "Dysmetria", "30": "Functional abnormality of the gastrointestinal tract", "31": "Skin ulcer", "32": "Abnormality of hepatobiliary system physiology", "33": "Abnormal sacrum morphology", "34": "Abnormality of bone mineral density", "35": "Frequent falls", "36": "Generalized onset motor seizure", "37": "Delusions", "38": "Vascular neoplasm", "39": "Biliary tract abnormality", "40": "Abnormal biliary tract morphology", "41": "Arthritis", "42": "Abnormality of the amniotic fluid", "43": "Dysphagia", "44": "Abnormal cellular phenotype", "45": "Limb ataxia", "46": "Bulbar signs", "47": "Abnormality of the lymphatic system", "48": "Status epilepticus", "49": "Visual loss"} |