| {"0": "Abnormality of the spleen", "1": "Splenomegaly", "2": "Mental deterioration", "3": "Abnormality of the lymphatic system", "4": "Recurrent respiratory infections", "5": "Cognitive impairment", "6": "Abnormality of the vasculature of the eye", "7": "Respiratory tract infection", "8": "Abnormality of the gingiva", "9": "Abnormal oral mucosa morphology", "10": "Juvenile onset", "11": "Dementia", "12": "Diarrhea", "13": "Coarse facial features", "14": "Corneal opacity", "15": "Vascular skin abnormality", "16": "Hepatosplenomegaly", "17": "Developmental regression", "18": "Abnormal pharynx morphology", "19": "Abnormality of the upper respiratory tract", "20": "Abnormal conjunctiva morphology", "21": "Abnormal retinal vascular morphology", "22": "Abnormal immune system morphology", "23": "Increased bone mineral density", "24": "Abnormal systemic arterial morphology", "25": "Abnormal rib cage morphology", "26": "Myoclonus", "27": "Abnormality of the pharynx", "28": "Loss of speech", "29": "Unusual infection", "30": "Ascites", "31": "Arthritis", "32": "Abnormality of the biliary system", "33": "Abnormality of cardiovascular system electrophysiology", "34": "Hallucinations", "35": "Abnormal myeloid leukocyte morphology", "36": "Progressive neurologic deterioration", "37": "Blindness", "38": "Abnormal respiratory system morphology", "39": "Abnormality of head blood vessel", "40": "Abnormality of extrapyramidal motor function", "41": "Posteriorly rotated ears", "42": "Fasciculations", "43": "Abnormal retinal artery morphology", "44": "Cherry red spot of the macula", "45": "Hydrops fetalis", "46": "Abdominal pain", "47": "Hypertrophic cardiomyopathy", "48": "Abnormality of skin adnexa physiology", "49": "Retinal degeneration"} |