| {"0": "Cognitive impairment", "1": "Phenotypic variability", "2": "Dementia", "3": "Ventricular arrhythmia", "4": "Abnormal circulating cholesterol concentration", "5": "Abnormal circulating lipid concentration", "6": "Corneal opacity", "7": "Pain", "8": "Mental deterioration", "9": "Hyperlipidemia", "10": "Abnormal muscle fiber morphology", "11": "Tachycardia", "12": "Bilateral sensorineural hearing impairment", "13": "Incoordination", "14": "Variable expressivity", "15": "Sensorimotor neuropathy", "16": "Toe walking", "17": "Gait disturbance", "18": "Ascites", "19": "Abnormality of the spleen", "20": "Abnormality of extrapyramidal motor function", "21": "Splenomegaly", "22": "Ragged red muscle fibers", "23": "Abnormal peripheral myelination", "24": "Muscle weakness", "25": "Ventricular hypertrophy", "26": "Abnormal biliary tract morphology", "27": "Abnormality of head blood vessel", "28": "Abnormality of pulmonary circulation", "29": "Rigidity", "30": "Biliary tract abnormality", "31": "Vascular skin abnormality", "32": "Frequent falls", "33": "Abnormal retinal artery morphology", "34": "Functional motor deficit", "35": "Abnormal nephron morphology", "36": "Parkinsonism", "37": "Slowly progressive", "38": "Gait ataxia", "39": "Abnormal renal cortex morphology", "40": "Bulbar signs", "41": "Epistaxis", "42": "Abnormality of the upper respiratory tract", "43": "Abnormality of the tongue", "44": "Abnormal peripheral nervous system physiology", "45": "Pace of progression", "46": "Muscle stiffness", "47": "Action tremor", "48": "Waddling gait", "49": "Dysphagia"} |