chromosome 16p11.2 deletion syndrome, 220-kb (DOID:0060398)
Alliance: disease page
Synonyms: distal 16p11.2 microdeletion syndrome
Alt IDs: OMIM:613444, ORDO:261222, UMLS_CUI:C3150701, UMLS_CUI:C4518824
Definition: A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.