| {"0": "Biliary tract abnormality", "1": "Corneal opacity", "2": "Abnormal biliary tract morphology", "3": "Ventricular hypertrophy", "4": "Abnormality of head blood vessel", "5": "Mental deterioration", "6": "Abnormal retinal artery morphology", "7": "Dementia", "8": "Abnormal circulating lipid concentration", "9": "Vascular skin abnormality", "10": "Myoclonic seizure", "11": "Arthritis", "12": "Hand polydactyly", "13": "Delusions", "14": "Abnormal circulating cholesterol concentration", "15": "Disproportionate short stature", "16": "Abnormality of femur morphology", "17": "Abnormal left ventricle morphology", "18": "Duplication involving bones of the feet", "19": "Splenomegaly", "20": "Ragged red muscle fibers", "21": "Cherry red spot of the macula", "22": "Hallucinations", "23": "Action tremor", "24": "Visual loss", "25": "Left ventricular hypertrophy", "26": "Progressive neurologic deterioration", "27": "Osteopenia", "28": "Postural tremor", "29": "Young adult onset", "30": "Motor seizure", "31": "Photophobia", "32": "Disproportionate short limb short stature", "33": "Abnormality of the gallbladder", "34": "Frequent falls", "35": "Ectopic calcification", "36": "Abnormality of the spleen", "37": "Elevated pulmonary artery pressure", "38": "Generalized myoclonic seizure", "39": "Abnormal csf protein level", "40": "Variable expressivity", "41": "Bulbar signs", "42": "Dilated cardiomyopathy", "43": "Schizophrenia", "44": "Periventricular white matter hyperintensities", "45": "Cognitive impairment", "46": "Progressive psychomotor deterioration", "47": "Generalized onset motor seizure", "48": "Abnormal thoracic spine morphology", "49": "Memory impairment"} |