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chromosome 16p11.2 deletion syndrome, 220-kb
Summary
- Synonym
-
- 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.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060398
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
