| {"0": "Mental deterioration", "1": "Abnormality of the mitochondrion", "2": "Cognitive impairment", "3": "Phenotypic variability", "4": "Dementia", "5": "Hypertrophic cardiomyopathy", "6": "Optic disc pallor", "7": "Abnormal activity of mitochondrial respiratory chain", "8": "Muscle abnormality related to mitochondrial dysfunction", "9": "Variable expressivity", "10": "Action tremor", "11": "Reduced visual acuity", "12": "Abnormal circulating lipid concentration", "13": "Abnormality of the cerebrospinal fluid", "14": "Abnormal basal ganglia mri signal intensity", "15": "Corneal opacity", "16": "Abnormal retinal morphology", "17": "Mitochondrial myopathy", "18": "Abnormality of hepatobiliary system physiology", "19": "Myoclonus", "20": "Abnormality of corneal stroma", "21": "Decreased activity of mitochondrial complex i", "22": "Optic neuropathy", "23": "Abnormal cellular phenotype", "24": "Abnormality of coordination", "25": "Lower limb spasticity", "26": "Abnormality of extrapyramidal motor function", "27": "Loss of speech", "28": "Increased serum lactate", "29": "Increased csf lactate", "30": "Bulbar signs", "31": "Dilated cardiomyopathy", "32": "Cerebellar atrophy", "33": "Abnormal retinal artery morphology", "34": "Abnormal csf metabolite level", "35": "Abnormal chorioretinal morphology", "36": "Supranuclear gaze palsy", "37": "Blindness", "38": "Abnormal circulating cholesterol concentration", "39": "Abnormal mitochondria in muscle tissue", "40": "Abnormal choroid morphology", "41": "Postural tremor", "42": "Gait ataxia", "43": "Abnormal brainstem mri signal intensity", "44": "Ragged red muscle fibers", "45": "Abnormal circulating fatty acid concentration", "46": "Sensorimotor neuropathy", "47": "Retinal dystrophy", "48": "Biliary tract abnormality", "49": "Abnormal pyramidal sign"} |