Coffin-Siris syndrome 8

Term ID

DOID:0112367

Synonyms

• CSS8

Definition

A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/30580808/

References

• OMIM:618362

Ontology

Human Disease   ( DOID:0112367 )