chromosome 16p11.2 deletion syndrome, 593-kb (DOID:0070515)
Alliance: disease page
Synonyms: Proximal 16p11.2 microdeletion syndrome
Alt IDs: OMIM:611913, ORDO:261197, UMLS_CUI:C3150154, UMLS_CUI:C4273657
Definition: A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).