Visualize Submit Comment

Metadata
ID	DOID:0112372
Name	Coffin-Siris syndrome 11
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. https://pubmed.ncbi.nlm.nih.gov/30879640/
Xrefs	MIM:618779
Synonyms	CSS11 [EXACT]
Parent Relationships	is_a Coffin-Siris syndrome