| Metadata | |
|---|---|
| ID | DOID:0060430 |
| Name | chromosome 16p11.2 duplication syndrome |
| Definition | A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. https://ghr.nlm.nih.gov/condition/16p112-duplication |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
proximal 16p11.2 microduplication syndrome [EXACT] proximal dup(16)(p11.2) [EXACT] proximal trisomy 16p11.2 [EXACT] |
| Parent Relationships |