| {"0": "Abnormality of the mitochondrion", "1": "Increased serum lactate", "2": "Ventricular hypertrophy", "3": "Abnormal activity of mitochondrial respiratory chain", "4": "Abnormal circulating amino acid concentration", "5": "Nonimmune hydrops fetalis", "6": "Prenatal maternal abnormality", "7": "Erythema", "8": "Abnormal muscle fiber morphology", "9": "Slowly progressive", "10": "Abnormal circulating pyruvate family amino acid concentration", "11": "Lactic acidosis", "12": "Dermal atrophy", "13": "Ventricular arrhythmia", "14": "Osteosarcoma", "15": "Renal agenesis", "16": "Lethargy", "17": "Aplasia hypoplasia of the skin", "18": "Abnormal blood glucose concentration", "19": "Decreased activity of mitochondrial complex i", "20": "Abnormal cardiac ventricular function", "21": "Abnormal erythrocyte enzyme level", "22": "Abnormal number of erythroid precursors", "23": "Abnormal epidermal morphology", "24": "Abnormal hemoglobin", "25": "Abnormal saccadic eye movements", "26": "Slow saccadic eye movements", "27": "Developmental cataract", "28": "Progressive cerebellar ataxia", "29": "Abnormality of the musculature of the hand", "30": "Adenocarcinoma of the colon", "31": "Episodic vomiting", "32": "Cardiac conduction abnormality", "33": "Left ventricular hypertrophy", "34": "Hydrops fetalis", "35": "Abnormality of the thenar eminence", "36": "Primary gonadal insufficiency", "37": "Abnormal circulating carboxylic acid concentration", "38": "Abnormal circulating dicarboxylic acid concentration", "39": "Lack of skin elasticity", "40": "Persistence of hemoglobin f", "41": "Dehydration", "42": "Malignant genitourinary tract tumor", "43": "Hypoplasia of the frontal lobes", "44": "Pure red cell aplasia", "45": "Normochromic anemia", "46": "Coarctation of aorta", "47": "Macrocytic anemia", "48": "Abnormal circulating proteinogenic amino acid derivative concentration", "49": "Sprengel anomaly"} |