| Metadata | |
|---|---|
| ID | DOID:1928 |
| Name | Williams-Beuren syndrome |
| Definition | A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. https://ghr.nlm.nih.gov/condition/williams-syndrome, https://research.nhgri.nih.gov/atlas/condition/williams-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1249/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:63247009 |
| Subsets |
DO_FlyBase_slim NCIthesaurus |
| Synonyms |
Fanconi Schlesinger syndrome [EXACT] WBS [EXACT] |
| Parent Relationships |
is_a syndrome |