| {"0": "Cognitive impairment", "1": "Mental deterioration", "2": "Delusions", "3": "Dementia", "4": "Vascular skin abnormality", "5": "Biliary tract abnormality", "6": "Disproportionate short stature", "7": "Abnormal biliary tract morphology", "8": "Abnormality of femur morphology", "9": "Abnormal circulating lipid concentration", "10": "Corneal opacity", "11": "Clumsiness", "12": "Cherry red spot of the macula", "13": "Abnormality of head blood vessel", "14": "Abnormal retinal artery morphology", "15": "Bulbar signs", "16": "Limb undergrowth", "17": "Abnormal csf protein level", "18": "Abnormal myocardium morphology", "19": "Progressive neurologic deterioration", "20": "Abnormal aortic valve morphology", "21": "Increased bone mineral density", "22": "Renal agenesis", "23": "Abnormal pulmonary interstitial morphology", "24": "Ventricular arrhythmia", "25": "Personality changes", "26": "Abnormal pericardium morphology", "27": "Abnormal heart valve morphology", "28": "Schizophrenia", "29": "Mucosal telangiectasiae", "30": "Abnormality of corneal stroma", "31": "Neuronal loss in central nervous system", "32": "Abnormality of glycolipid metabolism", "33": "Proportionate short stature", "34": "Abnormal circulating cholesterol concentration", "35": "Reduced visual acuity", "36": "Hypocholesterolemia", "37": "Abnormal femoral neck morphology", "38": "Periventricular white matter hyperintensities", "39": "Disproportionate short limb short stature", "40": "Submucous cleft of soft and hard palate", "41": "Elevated pulmonary artery pressure", "42": "Loss of speech", "43": "Abnormal elasticity of skin", "44": "Variable expressivity", "45": "Abnormal bone structure", "46": "Unilateral renal agenesis", "47": "Myoclonus", "48": "Abnormality of lower limb joint", "49": "Abnormally lax or hyperextensible skin"} |