| {"0": "Abnormal activity of mitochondrial respiratory chain", "1": "Increased serum lactate", "2": "Increased csf lactate", "3": "Abnormality of the mitochondrion", "4": "Abnormal mitochondria in muscle tissue", "5": "Abnormal csf metabolite level", "6": "Proximal tubulopathy", "7": "Decreased activity of the pyruvate dehydrogenase complex", "8": "Abnormality of the musculature of the hand", "9": "Nonimmune hydrops fetalis", "10": "Impaired social interactions", "11": "Abnormality of the phalanges of the toes", "12": "Decreased activity of mitochondrial complex i", "13": "Focal t2 hyperintense brainstem lesion", "14": "Paroxysmal involuntary eye movements", "15": "Airway obstruction", "16": "Poor head control", "17": "Poor eye contact", "18": "Hypertrophic cardiomyopathy", "19": "Triphalangeal thumb", "20": "Sprengel anomaly", "21": "Elbow flexion contracture", "22": "Abnormality of subcutaneous fat tissue", "23": "Rimmed vacuoles", "24": "3 methylglutaconic aciduria", "25": "Duplication of thumb phalanx", "26": "Glaucoma", "27": "Retrognathia", "28": "Optic neuropathy", "29": "Abnormal social behavior", "30": "Decreased activity of mitochondrial complex iv", "31": "Pure red cell aplasia", "32": "Secondary microcephaly", "33": "Adducted thumb", "34": "Abnormal number of erythroid precursors", "35": "Vocal cord paralysis", "36": "Abnormality of thalamus morphology", "37": "Partial duplication of the phalanx of hand", "38": "Brisk reflexes", "39": "Abnormality of the thenar eminence", "40": "Abnormality of the musculature of the upper limbs", "41": "Osteosarcoma", "42": "Pigmentary retinopathy", "43": "Abnormal brainstem mri signal intensity", "44": "Scarring", "45": "Anencephaly", "46": "Abnormal erythrocyte enzyme level", "47": "Erythroid hypoplasia", "48": "Abnormal reticulocyte morphology", "49": "Limb joint contracture"} |