| {"0": "Muscle abnormality related to mitochondrial dysfunction", "1": "Optic disc pallor", "2": "Abnormal muscle fiber morphology", "3": "Sensorimotor neuropathy", "4": "Retinopathy", "5": "Abnormality of the mitochondrion", "6": "Areflexia of lower limbs", "7": "Mitochondrial myopathy", "8": "Peripheral axonal neuropathy", "9": "Abnormality of retinal pigmentation", "10": "Cardiac conduction abnormality", "11": "Visual field defect", "12": "Pigmentary retinopathy", "13": "Episodic vomiting", "14": "Postural tremor", "15": "Optic neuropathy", "16": "Memory impairment", "17": "Poor head control", "18": "Focal segmental glomerulosclerosis", "19": "Abnormal atrioventricular valve morphology", "20": "Morphological abnormality of the pyramidal tract", "21": "Abnormality of the musculature of the lower limbs", "22": "Schizophrenia", "23": "Abnormality of prothrombin", "24": "Upper limb muscle weakness", "25": "Abnormality of the tarsal bones", "26": "Abnormal circulating albumin concentration", "27": "Abnormal aortic valve morphology", "28": "Decreased activity of mitochondrial complex i", "29": "Abnormal activity of mitochondrial respiratory chain", "30": "Abnormal heart valve morphology", "31": "Abnormality of the supraorbital ridges", "32": "Abnormal mitochondria in muscle tissue", "33": "Abnormally lax or hyperextensible skin", "34": "Underdeveloped supraorbital ridges", "35": "Abnormal thoracic spine morphology", "36": "Laryngomalacia", "37": "Gastrointestinal hemorrhage", "38": "Muscle stiffness", "39": "Incomplete penetrance", "40": "Cns demyelination", "41": "Delayed cranial suture closure", "42": "Ventricular hypertrophy", "43": "Proximal muscle weakness in lower limbs", "44": "Delusions", "45": "Horizontal nystagmus", "46": "Dyskinesia", "47": "Abnormal brainstem mri signal intensity", "48": "Short palpebral fissure", "49": "Increased serum lactate"} |