chromosome 16p11.2 deletion syndrome, 220-kb

Term ID

DOID:0060398

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. https://pubmed.ncbi.nlm.nih.gov/20808231

References

• MIM:613444
• ORDO:261222
• UMLS_CUI:C3150701
• UMLS_CUI:C4518824

Ontology

Human Disease   ( DOID:0060398 )