disease has feature Supravalvular aortic stenosis syndromic intellectual disability syndrome caused by partial chromosomal deletion congenital nervous system disorder supravalvular aortic stenosis (disease) Williams syndrome DOID:1928 Fanconi Schlesinger syndrome GARD:0007891 ICD10:Q87.8 ICD9:759.89 MESH:D018980 MONDO:0008678 MedDRA:10049644 NCIT:C85232 OMIM:194050 Orphanet:904 SCTID:63247009 UMLS:C0175702 WBS WMS Williams syndrome Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) Williams-Beuren syndrome Williams-Beuren syndrome (WBS) chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb deletion 7q11.23 monosomy 7q11.23 multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic developmental defect of the eye malformation syndrome with short stature rare syndrome with cardiac malformations genetic hypertension partial deletion of the long arm of chromosome 7 motor stereotypies inherited tremor disorder rare neurologic disease with psychiatric involvement syndromic epicanthus genetic multiple congenital anomalies/dysmorphic syndrome neurovascular disease