Williams-Beuren syndrome

Term ID

DOID:1928

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. (3)

References

• ICD10CM:Q93.82
• MESH:D018980
• MIM:194050
• NCI:C85232
• SNOMEDCT_US_2023_03_01:63247009
• UMLS_CUI:C0175702

Ontology

Human Disease   ( DOID:1928 )