| {"0": "Cognitive impairment", "1": "Progressive neurologic deterioration", "2": "Abnormal biliary tract morphology", "3": "Abnormal retinal artery morphology", "4": "Horizontal nystagmus", "5": "Cherry red spot of the macula", "6": "Hyperintensity of cerebral white matter on mri", "7": "Dysostosis multiplex", "8": "Biliary tract abnormality", "9": "Postural tremor", "10": "Abnormality of visual evoked potentials", "11": "Sensorimotor neuropathy", "12": "Abnormality of head blood vessel", "13": "Abnormal tissue metabolite concentration", "14": "Aspiration pneumonia", "15": "Limb ataxia", "16": "Platyspondyly", "17": "Weakness of muscles of respiration", "18": "Ragged red muscle fibers", "19": "Muscle stiffness", "20": "Abnormal bone structure", "21": "Clumsiness", "22": "Frequent falls", "23": "Hepatomegaly", "24": "Thin ribs", "25": "Bulbar signs", "26": "Juvenile onset", "27": "Diminished movement", "28": "Loss of speech", "29": "Abnormal lower limb bone morphology", "30": "Abnormal sella turcica morphology", "31": "Sensory axonal neuropathy", "32": "Abnormality of glycolipid metabolism", "33": "Pain", "34": "Subcutaneous nodule", "35": "Decreased muscle mass", "36": "Abnormal visual electrophysiology", "37": "Abnormality of the wrist", "38": "Ascites", "39": "Dementia", "40": "Abnormal femoral neck morphology", "41": "Disproportionate short stature", "42": "Polyneuropathy", "43": "Aplasia hypoplasia involving the vertebral column", "44": "Nasogastric tube feeding in infancy", "45": "Macroglossia", "46": "Epiphyseal stippling", "47": "Incoordination", "48": "Toe walking", "49": "Abnormal enchondral ossification"} |