Coffin-Siris syndrome 11 (DOID:0112372)
Alliance: disease page
Synonyms: CSS11
Alt IDs: OMIM:618779
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.