| Metadata | |
|---|---|
| ID | DOID:0070515 |
| Name | chromosome 16p11.2 deletion syndrome, 593-kb |
| Definition | A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). https://pubmed.ncbi.nlm.nih.gov/19914906/, https://www.ncbi.nlm.nih.gov/books/NBK11167/ |
| Xrefs | |
| SKOS |
exactMatch GARD:10740 exactMatch MIM:611913 exactMatch ORDO:261197 exactMatch UMLS_CUI:C3150154 exactMatch UMLS_CUI:C4273657 broadMatch ICD10CM:Q93.5 |
| Subsets |
DO_rare_slim |
| Synonyms |
Proximal 16p11.2 microdeletion syndrome [EXACT] |
| Parent Relationships |