| {"0": "Infectious encephalitis", "1": "Ketoacidosis", "2": "Decreased plasma carnitine", "3": "Ketosis", "4": "Episodic vomiting", "5": "Cystic liver disease", "6": "Abnormal circulating fatty acid anion concentration", "7": "Impaired vibration sensation in the lower limbs", "8": "Abnormality of prothrombin", "9": "Goiter", "10": "Hyperactive patellar reflex", "11": "Abnormality of the calf musculature", "12": "Cytochrome c oxidase negative muscle fibers", "13": "Areflexia of lower limbs", "14": "Abnormal circulating aspartate family amino acid concentration", "15": "Dicarboxylic aciduria", "16": "Focal t2 hyperintense brainstem lesion", "17": "Decreased activity of mitochondrial complex iv", "18": "Abnormal circulating fatty acid concentration", "19": "Optic neuropathy", "20": "Young adult onset", "21": "Ketonuria", "22": "Abnormal mitochondria in muscle tissue", "23": "Papule", "24": "External ophthalmoplegia", "25": "Abnormal circulating pyruvate family amino acid concentration", "26": "Unusual infection by anatomical site", "27": "Mitochondrial myopathy", "28": "Paroxysmal involuntary eye movements", "29": "Sensorimotor neuropathy", "30": "Decreased activity of mitochondrial complex i", "31": "Acidemia", "32": "Inflammation of the large intestine", "33": "Proximal tubulopathy", "34": "Facial diplegia", "35": "Abnormal circulating proteinogenic amino acid derivative concentration", "36": "Decreased absent ankle reflexes", "37": "Progressive gait ataxia", "38": "Abnormality of the musculature of the lower limbs", "39": "Elbow flexion contracture", "40": "Hyperkinetic movements", "41": "Abnormal brainstem mri signal intensity", "42": "Increased serum pyruvate", "43": "Wormian bones", "44": "Accessory spleen", "45": "Sclerocornea", "46": "Supernumerary nipple", "47": "Lower limb hypertonia", "48": "Muscle abnormality related to mitochondrial dysfunction", "49": "Abnormal pericardium morphology"} |