{"0": "Cognitive impairment", "1": "Mental deterioration", "2": "Dementia", "3": "Abnormal circulating lipid concentration", "4": "Abnormal circulating cholesterol concentration", "5": "Variable expressivity", "6": "Contractures of the joints of the upper limbs", "7": "Ragged red muscle fibers", "8": "Abnormality of coordination", "9": "Muscle abnormality related to mitochondrial dysfunction", "10": "Action tremor", "11": "Phenotypic variability", "12": "Sensorimotor neuropathy", "13": "Abnormal biliary tract morphology", "14": "Limb joint contracture", "15": "Biliary tract abnormality", "16": "Myoclonic seizure", "17": "Abnormal visual electrophysiology", "18": "Clumsiness", "19": "Abnormality of extrapyramidal motor function", "20": "Pace of progression", "21": "Abnormality of femur morphology", "22": "Bulbar signs", "23": "Abnormality of visual evoked potentials", "24": "Left ventricular hypertrophy", "25": "Areflexia of lower limbs", "26": "Hyperlipidemia", "27": "Dysmetria", "28": "Cerebellar atrophy", "29": "Abnormality of head blood vessel", "30": "Optic disc pallor", "31": "Abnormal muscle fiber morphology", "32": "Abnormal retinal artery morphology", "33": "Hepatic failure", "34": "Polyneuropathy", "35": "Corneal opacity", "36": "Abnormal cellular phenotype", "37": "Ectopic calcification", "38": "Myoclonus", "39": "Progressive neurologic deterioration", "40": "Mitochondrial myopathy", "41": "Posteriorly rotated ears", "42": "Disproportionate short stature", "43": "Migraine", "44": "Decreased absent ankle reflexes", "45": "Cherry red spot of the macula", "46": "Generalized myoclonic seizure", "47": "Paraparesis", "48": "Abnormal tongue morphology", "49": "Muscle weakness"}