Term Name: Williams-Beuren syndrome
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 )

Relationships
is a type of: autosomal dominant disease chromosomal deletion syndrome syndrome