{"0": "Pigmentary retinopathy", "1": "Optic disc pallor", "2": "Muscle abnormality related to mitochondrial dysfunction", "3": "Abnormal activity of mitochondrial respiratory chain", "4": "Heterogeneous", "5": "Abnormality of prothrombin", "6": "Episodic vomiting", "7": "Action tremor", "8": "Hyperthyroidism", "9": "Symptomatic seizures", "10": "Decreased activity of mitochondrial complex i", "11": "Mitochondrial myopathy", "12": "Abnormal protein glycosylation", "13": "Abnormal circulating sulfur amino acid concentration", "14": "Postural tremor", "15": "Impaired proprioception", "16": "Abnormal glycosylation", "17": "Abnormality of coagulation", "18": "Hypocalcemia", "19": "Abnormality of the coagulation cascade", "20": "Progressive cerebellar ataxia", "21": "Lissencephaly", "22": "Peripheral axonal neuropathy", "23": "Abnormal metabolism", "24": "Nasogastric tube feeding in infancy", "25": "Sensorimotor neuropathy", "26": "Ventricular hypertrophy", "27": "Sclerocornea", "28": "Sloping forehead", "29": "Morphological abnormality of the pyramidal tract", "30": "Increased susceptibility to fractures", "31": "Abnormal circulating carbohydrate concentration", "32": "Morphological abnormality of the corticospinal tract", "33": "Optic neuropathy", "34": "Peripheral demyelination", "35": "Multiple prenatal fractures", "36": "Abnormality of retinal pigmentation", "37": "Impaired vibratory sensation", "38": "Abnormality of peripheral nerves", "39": "Deep palmar crease", "40": "Increased serum pyruvate", "41": "Abnormality of the mitochondrion", "42": "Hepatic failure", "43": "Fetal distress", "44": "Generalized myoclonic seizure", "45": "Demyelinating peripheral neuropathy", "46": "Visual field defect", "47": "Focal t2 hyperintense brainstem lesion", "48": "Abnormal basal ganglia mri signal intensity", "49": "Abnormal brainstem mri signal intensity"}