Term Name:	chromosome 16p11.2 deletion syndrome, 220-kb
Synonyms:	distal 16p11.2 microdeletion syndrome
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.
Ontology:	Human Disease [DOID:0060398]   ( DOID:0060398 )