| {"0": "Abnormality of the mitochondrion", "1": "Abnormal activity of mitochondrial respiratory chain", "2": "Muscle abnormality related to mitochondrial dysfunction", "3": "Increased csf lactate", "4": "Abnormality of retinal pigmentation", "5": "Optic disc pallor", "6": "Abnormal csf metabolite level", "7": "Abnormality of hepatobiliary system physiology", "8": "Pigmentary retinopathy", "9": "Mental deterioration", "10": "Action tremor", "11": "Sensorimotor neuropathy", "12": "Abnormal circulating lipid concentration", "13": "Horizontal nystagmus", "14": "Mitochondrial myopathy", "15": "Abnormal choroid morphology", "16": "Abnormal chorioretinal morphology", "17": "Abnormal muscle fiber morphology", "18": "Visual field defect", "19": "Central scotoma", "20": "Abnormal tissue metabolite concentration", "21": "Abnormal circulating fatty acid concentration", "22": "Scotoma", "23": "Dementia", "24": "Optic neuropathy", "25": "Posterior embryotoxon", "26": "Abnormality of fontanelles", "27": "Decreased activity of mitochondrial complex i", "28": "Abnormality of the cerebrospinal fluid", "29": "Lower limb spasticity", "30": "Abnormal epiphyseal ossification", "31": "Progressive neurologic deterioration", "32": "Respiratory distress", "33": "Impaired proprioception", "34": "Cardiac conduction abnormality", "35": "Visual loss", "36": "Ragged red muscle fibers", "37": "Proximal tubulopathy", "38": "Abnormal biliary tract morphology", "39": "Leukodystrophy", "40": "Increased serum lactate", "41": "Dysmetria", "42": "Abnormal csf protein level", "43": "Schizophrenia", "44": "Epiphyseal stippling", "45": "Spastic paraparesis", "46": "Elevated pulmonary artery pressure", "47": "Abnormal metabolic brain imaging by mrs", "48": "Biliary tract abnormality", "49": "Abnormal mitochondria in muscle tissue"} |