| {"0": "Muscle abnormality related to mitochondrial dysfunction", "1": "Action tremor", "2": "Abnormal biliary tract morphology", "3": "Decreased activity of mitochondrial complex i", "4": "Poor eye contact", "5": "Optic disc pallor", "6": "Biliary tract abnormality", "7": "Paroxysmal involuntary eye movements", "8": "Focal t2 hyperintense brainstem lesion", "9": "Abnormal mitochondria in muscle tissue", "10": "Proximal tubulopathy", "11": "Mitochondrial myopathy", "12": "Neck muscle weakness", "13": "Abnormal brainstem mri signal intensity", "14": "Cognitive impairment", "15": "Personality changes", "16": "Impaired proprioception", "17": "Motor polyneuropathy", "18": "Optic neuropathy", "19": "Functional motor deficit", "20": "Abnormalities of placenta or umbilical cord", "21": "Toe walking", "22": "Reduced visual acuity", "23": "Bilateral tonic clonic seizure with generalized onset", "24": "Thickened skin", "25": "Variable expressivity", "26": "Neonatal death", "27": "Impaired social interactions", "28": "Delusions", "29": "Abnormal activity of mitochondrial respiratory chain", "30": "Mental deterioration", "31": "Blindness", "32": "Gowers sign", "33": "Myoclonus", "34": "Abnormal larynx morphology", "35": "Abnormality of the calf musculature", "36": "Chorea", "37": "Nonimmune hydrops fetalis", "38": "Respiratory distress", "39": "Muscle hypertrophy of the lower extremities", "40": "Renal tubular dysfunction", "41": "Progressive neurologic deterioration", "42": "Nephropathy", "43": "Limb girdle muscle weakness", "44": "Skin rash", "45": "Underdeveloped supraorbital ridges", "46": "Waddling gait", "47": "Impaired tactile sensation", "48": "Inability to walk", "49": "Poor head control"} |