Potocki-Shaffer syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007636 ]
Term info
Potocki-Shaffer syndrome
- 11p11.2 deletion
- PSS
- proximal 11p deletion syndrome
disease_ontology
DOID:0111687