{"0": "Abnormal activity of mitochondrial respiratory chain", "1": "Increased csf lactate", "2": "Abnormal csf metabolite level", "3": "Abnormality of the mitochondrion", "4": "Decreased activity of mitochondrial complex i", "5": "Leukodystrophy", "6": "Increased serum lactate", "7": "Muscle abnormality related to mitochondrial dysfunction", "8": "Abnormal mitochondria in muscle tissue", "9": "Increased serum pyruvate", "10": "Abnormal circulating carbohydrate concentration", "11": "Lactic acidosis", "12": "Focal t2 hyperintense brainstem lesion", "13": "Paroxysmal involuntary eye movements", "14": "Abnormal brainstem mri signal intensity", "15": "Optic disc pallor", "16": "Optic neuropathy", "17": "Progressive cerebellar ataxia", "18": "Proximal tubulopathy", "19": "Renal tubular dysfunction", "20": "Disproportionate short stature", "21": "Abnormal saccadic eye movements", "22": "Respiratory distress", "23": "Abnormal enchondral ossification", "24": "Delusions", "25": "Disproportionate short limb short stature", "26": "Abnormal social behavior", "27": "Abnormal epiphyseal ossification", "28": "Lethargy", "29": "Limited elbow movement", "30": "Abnormality of the gallbladder", "31": "Abnormality of epiphysis morphology", "32": "Mitochondrial myopathy", "33": "Metabolic acidosis", "34": "Poor eye contact", "35": "Encephalopathy", "36": "Microretrognathia", "37": "Hyperammonemia", "38": "Thoracic hypoplasia", "39": "Rhizomelia", "40": "Abnormal urine carboxylic acid level", "41": "Schizophrenia", "42": "Biliary tract abnormality", "43": "Aplasia hypoplasia of the skin", "44": "Action tremor", "45": "Abnormality of acid base homeostasis", "46": "Abnormal gallbladder morphology", "47": "Focal t2 hyperintense basal ganglia lesion", "48": "Impaired social interactions", "49": "Aplasia hypoplasia involving bones of the thorax"}