| {"0": "Abnormality of acid base homeostasis", "1": "Abnormality of the mitochondrion", "2": "Lactic acidosis", "3": "Increased serum lactate", "4": "Metabolic acidosis", "5": "Abnormal myocardium morphology", "6": "Abnormal activity of mitochondrial respiratory chain", "7": "Abnormal blood glucose concentration", "8": "Increased csf lactate", "9": "Muscle abnormality related to mitochondrial dysfunction", "10": "Lethargy", "11": "Reduced consciousness confusion", "12": "Muscle weakness", "13": "Leukodystrophy", "14": "Poor head control", "15": "Ophthalmoparesis", "16": "Abnormal csf metabolite level", "17": "Mitochondrial myopathy", "18": "Decreased activity of mitochondrial complex i", "19": "Abnormal urine ph", "20": "Pigmentary retinopathy", "21": "Organic aciduria", "22": "Encephalopathy", "23": "Abnormal circulating carbohydrate concentration", "24": "Increased serum pyruvate", "25": "Optic disc pallor", "26": "Abnormal glucose homeostasis", "27": "Respiratory insufficiency", "28": "Abnormal cns myelination", "29": "Abnormal basal ganglia mri signal intensity", "30": "Proximal tubulopathy", "31": "Hypertrophic cardiomyopathy", "32": "Abnormal mitochondria in muscle tissue", "33": "Abnormal circulating amino acid concentration", "34": "Abnormal urine carboxylic acid level", "35": "Fetal distress", "36": "Abnormal cellular phenotype", "37": "Abnormal circulating proteinogenic amino acid derivative concentration", "38": "Vomiting", "39": "Decreased activity of the pyruvate dehydrogenase complex", "40": "Abnormal brainstem mri signal intensity", "41": "Blindness", "42": "Paroxysmal involuntary eye movements", "43": "Focal t2 hyperintense brainstem lesion", "44": "Abnormal muscle fiber morphology", "45": "Abnormal myelination", "46": "Abnormality of coordination", "47": "Peripheral neuropathy", "48": "Renal tubular dysfunction", "49": "Coma"} |