| {"0": "Leukodystrophy", "1": "Increased csf lactate", "2": "Abnormal activity of mitochondrial respiratory chain", "3": "Acute leukemia", "4": "Hypoplastic facial bones", "5": "Myelodysplasia", "6": "Attenuation of retinal blood vessels", "7": "Progressive cerebellar ataxia", "8": "Decreased activity of mitochondrial complex i", "9": "Horseshoe kidney", "10": "Abnormality of the ankles", "11": "Premature ovarian insufficiency", "12": "Abnormal circulating amino acid concentration", "13": "Abnormal mitochondria in muscle tissue", "14": "Abnormal csf metabolite level", "15": "Lactic acidosis", "16": "Focal t2 hyperintense brainstem lesion", "17": "Abnormal basal ganglia mri signal intensity", "18": "Abnormal brainstem mri signal intensity", "19": "Slowly progressive", "20": "Renal tubular dysfunction", "21": "Proximal tubulopathy", "22": "Paroxysmal involuntary eye movements", "23": "Abnormality of the musculature of the hand", "24": "Blepharophimosis", "25": "Absent forearm bone", "26": "Microcytic anemia", "27": "Renal agenesis", "28": "Coarctation of aorta", "29": "Abnormal hemoglobin", "30": "Metaphyseal sclerosis", "31": "Scotoma", "32": "Lethargy", "33": "Persistence of hemoglobin f", "34": "Hypercalcemia", "35": "Malignant genitourinary tract tumor", "36": "Abnormality of vitamin b metabolism", "37": "Abnormal ovarian physiology", "38": "Abnormality of the thenar eminence", "39": "Cerebral hemorrhage", "40": "Acute myeloid leukemia", "41": "Ketoacidosis", "42": "Impaired social interactions", "43": "Hypoventilation", "44": "Reticulocytopenia", "45": "Muscle abnormality related to mitochondrial dysfunction", "46": "Abnormality of the wrist", "47": "Poor eye contact", "48": "Pure red cell aplasia", "49": "Absent thumb"} |