| {"0": "Arthritis", "1": "Abnormal circulating cholesterol concentration", "2": "Abnormal epidermal morphology", "3": "Nail dysplasia", "4": "Sensorimotor neuropathy", "5": "Sparse or absent eyelashes", "6": "Sparse eyebrow", "7": "Ectopic calcification", "8": "Skin nodule", "9": "Alopecia", "10": "Hyperconvex nail", "11": "Hypocholesterolemia", "12": "Abnormality of the larynx", "13": "Muscle abnormality related to mitochondrial dysfunction", "14": "Biliary tract abnormality", "15": "Polyneuropathy", "16": "Subcutaneous nodule", "17": "Limb ataxia", "18": "Rhizomelia", "19": "Young adult onset", "20": "Abnormal pulmonary interstitial morphology", "21": "Delusions", "22": "Contractures involving the joints of the feet", "23": "Aplasia hypoplasia involving bones of the thorax", "24": "Arteriosclerosis", "25": "Kinetic tremor", "26": "Lipodystrophy", "27": "Cardiac conduction abnormality", "28": "Ectrodactyly", "29": "Abnormal tissue metabolite concentration", "30": "Resting tremor", "31": "Muscle stiffness", "32": "Increased bone mineral density", "33": "Abnormal pericardium morphology", "34": "Abnormal biliary tract morphology", "35": "Abnormality of head blood vessel", "36": "Dementia", "37": "Nail dystrophy", "38": "Heterogeneous", "39": "Ichthyosis", "40": "Disproportionate short stature", "41": "Hyperlipidemia", "42": "Hand polydactyly", "43": "Periventricular white matter hyperintensities", "44": "Sparse eyelashes", "45": "Dysdiadochokinesis", "46": "Neuronal loss in central nervous system", "47": "Bulbar signs", "48": "Abnormal epiphyseal ossification", "49": "Status epilepticus"} |