| Term Name: | Potocki-Shaffer syndrome |
|---|---|
| Synonyms: | 11p11.2 deletion, proximal 11p deletion syndrome |
| Definition: | A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. |
| Ontology: | Human Disease [DOID:0111687] ( DOID:0111687 ) |