| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
distal 16p11.2 microdeletion syndrome [EXACT] |
| Parent Relationships |