| {"0": "Muscle abnormality related to mitochondrial dysfunction", "1": "Cardiac conduction abnormality", "2": "Abnormal activity of mitochondrial respiratory chain", "3": "Abnormality of the mitochondrion", "4": "Mental deterioration", "5": "Ventricular arrhythmia", "6": "Abnormal muscle fiber morphology", "7": "Symptomatic seizures", "8": "Mitochondrial myopathy", "9": "Dementia", "10": "Blindness", "11": "Focal t2 hyperintense brainstem lesion", "12": "Decreased activity of mitochondrial complex i", "13": "Hypoglycemic seizures", "14": "Phenotypic variability", "15": "Optic disc pallor", "16": "Abnormal brainstem mri signal intensity", "17": "Variable expressivity", "18": "Nephropathy", "19": "Insulin resistance", "20": "Abnormal mitochondria in muscle tissue", "21": "Bulbar signs", "22": "Abnormal circulating lipid concentration", "23": "Disproportionate short stature", "24": "Increased serum pyruvate", "25": "Hypoketotic hypoglycemia", "26": "Abnormal circulating acetylcarnitine concentration", "27": "Fibrous tissue neoplasm", "28": "Paraparesis", "29": "Optic neuropathy", "30": "Paroxysmal involuntary eye movements", "31": "Episodic vomiting", "32": "Proximal tubulopathy", "33": "Progressive cerebellar ataxia", "34": "Tachycardia", "35": "Dilated cardiomyopathy", "36": "Subcutaneous nodule", "37": "Young adult onset", "38": "Abnormality of pulmonary circulation", "39": "Abnormal conjunctiva morphology", "40": "Amyotrophic lateral sclerosis", "41": "Abnormal csf protein level", "42": "Disproportionate short limb short stature", "43": "Visual loss", "44": "Spastic paraparesis", "45": "Heart block", "46": "Ventricular hypertrophy", "47": "Pathologic fracture", "48": "Supranuclear gaze palsy", "49": "Postural tremor"} |