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 )

Relationships
is a type of: chromosomal deletion syndrome syndrome