Term Name: | Potocki-Shaffer syndrome |
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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 ) |