autosomal dominant disease chromosomal deletion syndrome Williams-Beuren syndrome OMIM mapping confirmed by DO. [LS]. disease_ontology ICD10CM:Q93.82 SNOMEDCT_US_2020_03_01:63247009 NCI:C85232 OMIM:194050 DOID:1928 Fanconi Schlesinger syndrome MESH:D018980 UMLS_CUI:C0175702 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. syndrome