| {"0": "Soft tissue sarcoma", "1": "Abnormal circulating proteinogenic amino acid concentration", "2": "Exercise intolerance", "3": "Abnormal blood transition element cation concentration", "4": "Abnormal circulating sulfur amino acid concentration", "5": "Relative macrocephaly", "6": "Proximal tubulopathy", "7": "Hemolytic anemia", "8": "Abnormal circulating bilirubin concentration", "9": "Round face", "10": "Progressive cerebellar ataxia", "11": "Deep philtrum", "12": "Abnormal mitochondria in muscle tissue", "13": "Renal tubular dysfunction", "14": "Increased serum pyruvate", "15": "Hyperthyroidism", "16": "Abnormality of the pulmonary vasculature", "17": "Mitochondrial myopathy", "18": "Abnormal peripheral action potential amplitude", "19": "Oligohydramnios", "20": "Paroxysmal involuntary eye movements", "21": "Abnormal circulating carbohydrate concentration", "22": "Motor axonal neuropathy", "23": "Abnormal brainstem mri signal intensity", "24": "Abnormal blistering of the skin", "25": "Ragged red muscle fibers", "26": "Wide intermamillary distance", "27": "Focal t2 hyperintense brainstem lesion", "28": "Abnormal epidermal morphology", "29": "Renal tubular acidosis", "30": "Colitis", "31": "Cubitus valgus", "32": "Bronchiectasis", "33": "Dolichocephaly", "34": "Recurrent fractures", "35": "External ophthalmoplegia", "36": "Limb undergrowth", "37": "Uveitis", "38": "Abnormality of the parathyroid gland", "39": "Neoplasm of the breast", "40": "Neoplasm of the stomach", "41": "Stomach cancer", "42": "Platyspondyly", "43": "Abnormal lung lobation", "44": "Psychomotor retardation", "45": "Muscle abnormality related to mitochondrial dysfunction", "46": "Broad neck", "47": "Amenorrhea", "48": "Abnormal circulating cholesterol concentration", "49": "Short palpebral fissure"} |