Version: 8.0.0
Date: Tue Jan 28 2025
chromosome 16p11.2 deletion syndrome, 220-kb
DOID:0060398
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • distal 16p11.2 microdeletion syndrome
Cross References
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