| {"0": "Cognitive impairment", "1": "Toe walking", "2": "Motor neuron atrophy", "3": "Abnormal circulating cholesterol concentration", "4": "Juvenile onset", "5": "Macular degeneration", "6": "Bulbar signs", "7": "Abnormal larynx physiology", "8": "Hypocholesterolemia", "9": "Psychomotor deterioration", "10": "Photophobia", "11": "Amyotrophic lateral sclerosis", "12": "Clumsiness", "13": "Arthralgia", "14": "Bone pain", "15": "Abnormal neuron morphology", "16": "Xerostomia", "17": "Emg neuropathic changes", "18": "Increased cerebral lipofuscin", "19": "Cherry red spot of the macula", "20": "Fatigable weakness of bulbar muscles", "21": "Fasciculations", "22": "Global brain atrophy", "23": "Abnormal retinal artery morphology", "24": "Ascites", "25": "Pathologic fracture", "26": "Fatigable weakness of swallowing muscles", "27": "Mental deterioration", "28": "Progressive neurologic deterioration", "29": "Cns demyelination", "30": "Avascular necrosis", "31": "Abnormal electroretinogram", "32": "Dementia", "33": "Pain", "34": "Sensorimotor neuropathy", "35": "Peripheral demyelination", "36": "Biliary tract abnormality", "37": "Personality changes", "38": "Epistaxis", "39": "Horizontal nystagmus", "40": "Generalized muscle weakness", "41": "Abnormality of pulmonary circulation", "42": "Ventricular hypertrophy", "43": "Abnormal biliary tract morphology", "44": "Delusions", "45": "Dental crowding", "46": "Arteriosclerosis", "47": "Fatigable weakness of respiratory muscles", "48": "Loss of speech", "49": "Delayed cranial suture closure"} |