| {"0": "Stroke like episode", "1": "Hypoketotic hypoglycemia", "2": "Epiphyseal stippling", "3": "Left ventricular systolic dysfunction", "4": "Abnormal circulating acetylcarnitine concentration", "5": "Retinal vascular tortuosity", "6": "Posterior embryotoxon", "7": "Abnormal renal insterstitial morphology", "8": "Anteriorly placed anus", "9": "Abnormal epiphyseal ossification", "10": "Hypoparathyroidism", "11": "Progressive external ophthalmoplegia", "12": "Hallux valgus", "13": "Mitochondrial inheritance", "14": "Hyperreflexia in upper limbs", "15": "Coxa vara", "16": "Abnormal circulating fatty acid concentration", "17": "Central scotoma", "18": "Abnormal biliary tract morphology", "19": "Ragged red muscle fibers", "20": "Abnormal circulating fatty acid anion concentration", "21": "Mania", "22": "3 methylglutaconic aciduria", "23": "Decreased plasma carnitine", "24": "Abnormality of the parathyroid gland", "25": "Biliary tract abnormality", "26": "Peptic ulcer", "27": "Skin nodule", "28": "Corpus callosum atrophy", "29": "Abnormal csf protein level", "30": "Peripheral demyelination", "31": "Acidemia", "32": "Postural tremor", "33": "Hypocalcemia", "34": "Polyneuropathy", "35": "Scotoma", "36": "Underdeveloped supraorbital ridges", "37": "Abnormal brainstem mri signal intensity", "38": "Tetraplegia", "39": "Abnormal renal tubule morphology", "40": "Morphological abnormality of the pyramidal tract", "41": "Cytochrome c oxidase negative muscle fibers", "42": "Aplasia hypoplasia of the femur", "43": "Eeg with spike wave complexes", "44": "Profound global developmental delay", "45": "Dicarboxylic aciduria", "46": "Ketosis", "47": "Limb pain", "48": "Abnormal mitochondria in muscle tissue", "49": "Sensory axonal neuropathy"} |