| {"0": "Postural tremor", "1": "Action tremor", "2": "Dementia", "3": "Cortical dysplasia", "4": "Dyskinesia", "5": "Rigidity", "6": "Variable expressivity", "7": "Chorea", "8": "Bulbar signs", "9": "Contractures of the joints of the upper limbs", "10": "Myoclonus", "11": "Biliary tract abnormality", "12": "Abnormal biliary tract morphology", "13": "Dysostosis multiplex", "14": "Polymicrogyria", "15": "Abnormal nephron morphology", "16": "Muscle stiffness", "17": "Abnormal muscle fiber morphology", "18": "Focal segmental glomerulosclerosis", "19": "Specific learning disability", "20": "Urinary glycosaminoglycan excretion", "21": "Mental deterioration", "22": "Elevated pulmonary artery pressure", "23": "Progressive gait ataxia", "24": "Abnormality of the phalanges of the toes", "25": "Abnormality of pulmonary circulation", "26": "Neuronal loss in central nervous system", "27": "Infantile muscular hypotonia", "28": "Abnormal csf protein level", "29": "Joint contracture of the hand", "30": "Abnormal retinal artery morphology", "31": "Abnormality of corneal stroma", "32": "Increased bone mineral density", "33": "Large basal ganglia", "34": "Abnormal renal cortex morphology", "35": "Muscle spasm", "36": "Abnormality of head blood vessel", "37": "Polyneuropathy", "38": "Glomerular sclerosis", "39": "Avascular necrosis", "40": "Abnormality of the septum pellucidum", "41": "Gait ataxia", "42": "Abnormality of the basal ganglia", "43": "Clumsiness", "44": "Phenotypic variability", "45": "Ventricular arrhythmia", "46": "Mucosal telangiectasiae", "47": "Focal onset seizure", "48": "Corneal opacity", "49": "Nasogastric tube feeding"} |