| {"0": "Abnormality of the spleen", "1": "Cognitive impairment", "2": "Vascular skin abnormality", "3": "Hypocholesterolemia", "4": "Abnormality of the lymphatic system", "5": "Cherry red spot of the macula", "6": "Abnormality of glycolipid metabolism", "7": "Pace of progression", "8": "Abnormal lower limb bone morphology", "9": "Abnormality of the umbilical cord", "10": "Abnormality of the biliary system", "11": "Pain", "12": "Dysostosis multiplex", "13": "Bulbar signs", "14": "Abnormality of bone mineral density", "15": "Abnormality of the alveolar ridges", "16": "Abnormal sternum morphology", "17": "Aortic valve stenosis", "18": "Abnormality of corneal stroma", "19": "Abnormality of long bone morphology", "20": "Abnormal bone structure", "21": "Capillary hemangioma", "22": "Mental deterioration", "23": "Central scotoma", "24": "Fluctuations in consciousness", "25": "Young adult onset", "26": "Episodic vomiting", "27": "Progressive gait ataxia", "28": "Underdeveloped supraorbital ridges", "29": "Abnormality of facial soft tissue", "30": "Abnormal pyramidal sign", "31": "Reduced tendon reflexes", "32": "Decreased absent ankle reflexes", "33": "Laryngomalacia", "34": "Clumsiness", "35": "Abnormality of pelvic girdle bone morphology", "36": "Gastroesophageal reflux", "37": "Abnormal circulating protein concentration", "38": "Pathologic fracture", "39": "Polyneuropathy", "40": "Abnormality of the bladder", "41": "Neuronal loss in central nervous system", "42": "Recurrent respiratory infections", "43": "Abnormality of toe", "44": "Abnormal pericardium morphology", "45": "Abnormal biliary tract morphology", "46": "Posteriorly rotated ears", "47": "Hepatomegaly", "48": "Dysphagia", "49": "Rhizomelia"} |