| {"0": "Optic disc pallor", "1": "Abnormal activity of mitochondrial respiratory chain", "2": "Muscle abnormality related to mitochondrial dysfunction", "3": "Abnormality of the mitochondrion", "4": "Visual field defect", "5": "Abnormal circulating lipid concentration", "6": "Increased csf lactate", "7": "Abnormal csf metabolite level", "8": "Abnormal social behavior", "9": "Mitochondrial myopathy", "10": "Decreased activity of mitochondrial complex i", "11": "Impaired social interactions", "12": "Lower limb spasticity", "13": "Poor eye contact", "14": "Scotoma", "15": "Abnormal choroid morphology", "16": "Abnormal chorioretinal morphology", "17": "Central scotoma", "18": "Optic neuropathy", "19": "Abnormal brainstem mri signal intensity", "20": "Brain imaging abnormality", "21": "Abnormal mitochondria in muscle tissue", "22": "Abnormal metabolic brain imaging by mrs", "23": "Corneal opacity", "24": "Focal t2 hyperintense brainstem lesion", "25": "Respiratory distress", "26": "Paroxysmal involuntary eye movements", "27": "Abnormally lax or hyperextensible skin", "28": "Abnormal epiphyseal ossification", "29": "Proximal tubulopathy", "30": "Spastic paraparesis", "31": "Paraplegia paraparesis", "32": "Poor head control", "33": "Abnormal circulating fatty acid concentration", "34": "Peripheral demyelination", "35": "Ragged red muscle fibers", "36": "Posterior embryotoxon", "37": "3 methylglutaconic aciduria", "38": "Abnormal enchondral ossification", "39": "Blindness", "40": "Paraparesis", "41": "Abnormal brain lactate level by mrs", "42": "Retinopathy", "43": "Photophobia", "44": "Polyneuropathy", "45": "Hypocholesterolemia", "46": "Postural tremor", "47": "Fetal distress", "48": "Bulbar signs", "49": "Redundant skin"} |