| {"0": "Focal t2 hyperintense brainstem lesion", "1": "Abnormal brainstem mri signal intensity", "2": "Paroxysmal involuntary eye movements", "3": "Dicarboxylic aciduria", "4": "Pituitary adenoma", "5": "Abnormal circulating fatty acid anion concentration", "6": "Glioma", "7": "Decreased plasma carnitine", "8": "Proximal tubulopathy", "9": "Abnormal mitochondria in muscle tissue", "10": "Metaphyseal dysplasia", "11": "Neuroendocrine neoplasm", "12": "Optic neuropathy", "13": "Ketosis", "14": "Aplasia hypoplasia involving the femoral head and neck", "15": "Renal dysplasia", "16": "Atrial arrhythmia", "17": "Abnormal circulating fatty acid concentration", "18": "Mitochondrial myopathy", "19": "Organic aciduria", "20": "Vocal cord paralysis", "21": "Lower limb hypertonia", "22": "Erythroid hypoplasia", "23": "Lower limb hyperreflexia", "24": "Abnormality of the thenar eminence", "25": "Dehydration", "26": "Breast carcinoma", "27": "Malignant genitourinary tract tumor", "28": "Aplasia hypoplasia involving the pelvis", "29": "Adenocarcinoma of the colon", "30": "Ketoacidosis", "31": "Increased serum pyruvate", "32": "Persistence of hemoglobin f", "33": "Abnormal globus pallidus morphology", "34": "Partial duplication of the phalanx of hand", "35": "Abnormal urine ph", "36": "Reticulocytopenia", "37": "Thin ribs", "38": "Gastroparesis", "39": "Decreased activity of mitochondrial complex i", "40": "Developmental glaucoma", "41": "Muscle abnormality related to mitochondrial dysfunction", "42": "Pure red cell aplasia", "43": "Abnormal number of erythroid precursors", "44": "Decreased activity of the pyruvate dehydrogenase complex", "45": "Neoplasm of the eye", "46": "Abnormal circulating pyruvate family amino acid concentration", "47": "Hamartoma", "48": "Ketonuria", "49": "Hyperuricemia"} |