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Metadata
ID DOID:0060398
Name chromosome 16p11.2 deletion syndrome, 220-kb
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.
https://pubmed.ncbi.nlm.nih.gov/20808231
Xrefs

OMIM:613444

ORDO:261222

UMLS_CUI:C3150701

UMLS_CUI:C4518824

Subsets

DO_rare_slim

Synonyms

distal 16p11.2 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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