Term Name: | Williams-Beuren syndrome |
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Synonyms: | Fanconi Schlesinger syndrome, WBS |
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. |
Ontology: | Human Disease [DOID:1928] ( DOID:1928 ) |