| {"0": "Muscle abnormality related to mitochondrial dysfunction", "1": "Impaired proprioception", "2": "Corneal opacity", "3": "Mitochondrial myopathy", "4": "Decreased activity of mitochondrial complex i", "5": "Generalized myoclonic seizure", "6": "Abnormal choroid morphology", "7": "Abnormal chorioretinal morphology", "8": "Abnormal circulating cholesterol concentration", "9": "Sensorimotor neuropathy", "10": "Paraparesis", "11": "Optic disc pallor", "12": "Ventricular hypertrophy", "13": "Poor eye contact", "14": "Progressive neurologic deterioration", "15": "Spastic paraparesis", "16": "Respiratory distress", "17": "Posterior embryotoxon", "18": "Abnormality of female external genitalia", "19": "Schizophrenia", "20": "Abnormal epiphyseal ossification", "21": "Bulbar signs", "22": "Abnormal activity of mitochondrial respiratory chain", "23": "Optic neuropathy", "24": "Pigmentary retinopathy", "25": "Hypocholesterolemia", "26": "Abnormal retinal artery morphology", "27": "Abnormality of fontanelles", "28": "Central scotoma", "29": "Abnormal tissue metabolite concentration", "30": "Nyctalopia", "31": "Visual field defect", "32": "Progressive psychomotor deterioration", "33": "Abnormal enchondral ossification", "34": "Polyneuropathy", "35": "Epiphyseal stippling", "36": "Abnormality of head blood vessel", "37": "Progressive cerebellar ataxia", "38": "Disproportionate short stature", "39": "Abnormal retinal vascular morphology", "40": "Hyperintensity of cerebral white matter on mri", "41": "Horizontal nystagmus", "42": "Ventricular preexcitation", "43": "Biliary tract abnormality", "44": "Abnormal biliary tract morphology", "45": "Impaired vibratory sensation", "46": "Abnormal basal ganglia mri signal intensity", "47": "Abnormality of epiphysis morphology", "48": "Hepatic failure", "49": "Increased csf lactate"} |