| {"0": "Mental deterioration", "1": "Dementia", "2": "Cognitive impairment", "3": "Abnormal vertebral morphology", "4": "Ragged red muscle fibers", "5": "Biliary tract abnormality", "6": "Abnormality of extrapyramidal motor function", "7": "Impaired proprioception", "8": "Clumsiness", "9": "Sensorimotor neuropathy", "10": "Abnormal biliary tract morphology", "11": "Polyneuropathy", "12": "Myoclonus", "13": "Abnormal form of the vertebral bodies", "14": "Abnormal circulating cholesterol concentration", "15": "Abnormal enchondral ossification", "16": "Abnormal epiphyseal ossification", "17": "Abnormal muscle fiber morphology", "18": "Morphological abnormality of the pyramidal tract", "19": "Abnormal circulating lipid concentration", "20": "Variable expressivity", "21": "Dysphagia", "22": "Optic disc pallor", "23": "Phenotypic variability", "24": "Action tremor", "25": "Abnormal vascular physiology", "26": "Weakness due to upper motor neuron dysfunction", "27": "Abnormal tissue metabolite concentration", "28": "Horizontal nystagmus", "29": "Abnormality of femur morphology", "30": "Abnormal retinal artery morphology", "31": "Impaired vibratory sensation", "32": "Incoordination", "33": "Inability to walk", "34": "Abnormal choroid morphology", "35": "Postural tremor", "36": "Peripheral axonal degeneration", "37": "Functional motor deficit", "38": "Abnormality of head blood vessel", "39": "Abnormal visual electrophysiology", "40": "Abnormal delivery", "41": "Bilateral sensorineural hearing impairment", "42": "Abnormality of visual evoked potentials", "43": "Peripheral axonal neuropathy", "44": "Splenomegaly", "45": "Bulbar signs", "46": "Central scotoma", "47": "Abnormal chorioretinal morphology", "48": "Loss of speech", "49": "Abnormal pericardium morphology"} |