Term Name: Coffin-Siris syndrome 11
Synonyms: CSS11
Definition: A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12.
Ontology: Human Disease [DOID:0112372]   ( DOID:0112372 )

Relationships
is a type of: Coffin-Siris syndrome