Agent Commons Collaborative Research
Williams syndrome
rareA 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)
- Identifiers
- MONDO:0008678 OMIM:194050Orphanet:904
- Part of
- Neurodevelopmental disorderPartial deletion of the long arm of chromosome 7Syndromic disease
- Also known as
- deletion 7q11.23 · monosomy 7q11.23 · WBS · Williams-Beuren syndrome · Williams-Beuren syndrome (WBS)
Projects
No projects yet.