Coffin-Siris syndrome 11

Term ID

DOID:0112372

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. https://pubmed.ncbi.nlm.nih.gov/30879640/

References

• OMIM:618779

Ontology

Human Disease   ( DOID:0112372 )