| {"0": "Dementia", "1": "Mental deterioration", "2": "Biliary tract abnormality", "3": "Cognitive impairment", "4": "Abnormal biliary tract morphology", "5": "Abnormal muscle fiber morphology", "6": "Proximal muscle weakness", "7": "Ventricular hypertrophy", "8": "Respiratory distress", "9": "Horizontal nystagmus", "10": "Ragged red muscle fibers", "11": "Polyneuropathy", "12": "Peripheral axonal neuropathy", "13": "Abnormality of the cerebrospinal fluid", "14": "Lower limb spasticity", "15": "Abnormal peripheral nervous system physiology", "16": "Left ventricular hypertrophy", "17": "Abnormal activity of mitochondrial respiratory chain", "18": "Optic disc pallor", "19": "Sensorimotor neuropathy", "20": "Abnormal circulating lipid concentration", "21": "Limb girdle muscle weakness", "22": "Toe walking", "23": "Abnormal left ventricle morphology", "24": "Muscle abnormality related to mitochondrial dysfunction", "25": "Abnormal circulating cholesterol concentration", "26": "Frequent falls", "27": "Peripheral axonal degeneration", "28": "Hypertrophic cardiomyopathy", "29": "Areflexia of lower limbs", "30": "Areflexia", "31": "Peripheral demyelination", "32": "Increased csf lactate", "33": "Cardiac conduction abnormality", "34": "Abnormality of coordination", "35": "Poor head control", "36": "Abnormal csf metabolite level", "37": "Variable expressivity", "38": "Osteoarthritis", "39": "Emg abnormality", "40": "Abnormal peripheral myelination", "41": "Abnormality of the mitochondrion", "42": "Bulbar signs", "43": "Phenotypic variability", "44": "Reduced tendon reflexes", "45": "Abnormal pyramidal sign", "46": "Corneal opacity", "47": "Ventricular arrhythmia", "48": "Weakness of muscles of respiration", "49": "Abnormal chorioretinal morphology"} |