| {"0": "Biliary tract abnormality", "1": "Hand polydactyly", "2": "Abnormal biliary tract morphology", "3": "Duplication involving bones of the feet", "4": "Postural tremor", "5": "Postaxial polydactyly", "6": "Abnormal enchondral ossification", "7": "Abnormal facial expression", "8": "Micromelia", "9": "Arthrogryposis multiplex congenita", "10": "Disproportionate short limb short stature", "11": "Disproportionate short stature", "12": "Ascites", "13": "Hypomimic face", "14": "Open mouth", "15": "Thyroiditis", "16": "Preaxial hand polydactyly", "17": "Abnormal pulmonary interstitial morphology", "18": "Combined immunodeficiency", "19": "Preaxial polydactyly", "20": "Kinetic tremor", "21": "Postaxial hand polydactyly", "22": "Abnormality of corneal stroma", "23": "Abnormal metacarpal morphology", "24": "Cerebral palsy", "25": "Abnormal oral frenulum morphology", "26": "Decreased facial expression", "27": "Mucosal telangiectasiae", "28": "Autoimmunity", "29": "Ambiguous genitalia", "30": "Increased bone mineral density", "31": "Decreased circulating level of specific antibody", "32": "Paraparesis", "33": "Abnormal epiphyseal ossification", "34": "Hyperlipidemia", "35": "Microcornea", "36": "Action tremor", "37": "Dysdiadochokinesis", "38": "Aortic valve stenosis", "39": "Increased circulating antibody level", "40": "Abnormal paranasal sinus morphology", "41": "Cherry red spot of the macula", "42": "Psychosis", "43": "Sensorimotor neuropathy", "44": "Autoimmune hemolytic anemia", "45": "Impaired proprioception", "46": "Type i diabetes mellitus", "47": "Abnormal circulating cholesterol concentration", "48": "Skin ulcer", "49": "Abnormal lymphocyte morphology"} |