| {"0": "Scotoma", "1": "Peripheral demyelination", "2": "Central scotoma", "3": "Underdeveloped supraorbital ridges", "4": "Very long chain fatty acid accumulation", "5": "Cns demyelination", "6": "Abnormal circulating fatty acid concentration", "7": "Decreased activity of mitochondrial complex iv", "8": "Abnormal circulating long chain fatty acid concentration", "9": "Spastic paraparesis", "10": "Ragged red muscle fibers", "11": "Impaired vibration sensation in the lower limbs", "12": "Abnormal epiphyseal ossification", "13": "Decreased absent ankle reflexes", "14": "Postural tremor", "15": "Large hands", "16": "Atrophy degeneration involving the corticospinal tracts", "17": "Epiphyseal stippling", "18": "Constriction of peripheral visual field", "19": "Primary adrenal insufficiency", "20": "Abnormal biliary tract morphology", "21": "Bulbar signs", "22": "Brushfield spots", "23": "Morphological abnormality of the corticospinal tract", "24": "Papule", "25": "Morphological abnormality of the pyramidal tract", "26": "Muscle weakness", "27": "Ankle clonus", "28": "Insulin resistant diabetes mellitus", "29": "Biliary tract abnormality", "30": "Anencephaly", "31": "Polyneuropathy", "32": "Optic neuropathy", "33": "Tinnitus", "34": "Horizontal nystagmus", "35": "Focal t2 hyperintense brainstem lesion", "36": "Flat occiput", "37": "Abnormality of coordination", "38": "Muscle stiffness", "39": "Lower limb hyperreflexia", "40": "Episodic vomiting", "41": "Schizophrenia", "42": "Brittle hair", "43": "Scrotal hypoplasia", "44": "Muscle abnormality related to mitochondrial dysfunction", "45": "Abnormal csf protein level", "46": "Abnormal mitochondria in muscle tissue", "47": "Mitochondrial myopathy", "48": "Retinal vascular tortuosity", "49": "Abnormal brainstem mri signal intensity"} |