| {"0": "Bulbar signs", "1": "Polyneuropathy", "2": "Abnormal tissue metabolite concentration", "3": "Central scotoma", "4": "Abnormal biliary tract morphology", "5": "Postural tremor", "6": "Biliary tract abnormality", "7": "Scotoma", "8": "Pathologic fracture", "9": "Abnormality of corneal stroma", "10": "Subcutaneous nodule", "11": "Hypercholesterolemia", "12": "Skin nodule", "13": "Abnormal retinal artery morphology", "14": "Underdeveloped supraorbital ridges", "15": "Abnormality of the achilles tendon", "16": "Spasticity", "17": "Ascites", "18": "Delusions", "19": "Gowers sign", "20": "Abnormality of coordination", "21": "Schizophrenia", "22": "Morphological abnormality of the pyramidal tract", "23": "Progressive neurologic deterioration", "24": "Clumsiness", "25": "Horizontal nystagmus", "26": "Hypoplasia of the odontoid process", "27": "Diffuse white matter abnormalities", "28": "Protruding tongue", "29": "Profound global developmental delay", "30": "Hyperintensity of cerebral white matter on mri", "31": "Neck muscle weakness", "32": "Orthostatic hypotension", "33": "Aplasia hypoplasia involving the vertebral column", "34": "Motor axonal neuropathy", "35": "Chronic diarrhea", "36": "Atrophy degeneration affecting the central nervous system", "37": "Abnormality of the odontoid process", "38": "Abnormality of head blood vessel", "39": "Frontotemporal dementia", "40": "Abnormal conjunctiva morphology", "41": "Toe walking", "42": "Abnormality of alkaline phosphatase level", "43": "Involuntary movements", "44": "Abnormal chorioretinal morphology", "45": "Arteriosclerosis", "46": "Fetal ultrasound soft marker", "47": "Abnormal choroid morphology", "48": "Young adult onset", "49": "Gait disturbance"} |