Coffin-Siris syndrome 4

Term ID

DOID:0070046

Synonyms

• autosomal dominant mental retardation 16
• CSS4
• MRD16

Definition

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. https://www.ncbi.nlm.nih.gov/pubmed/22426308

References

• OMIM:614609

Ontology

Human Disease   ( DOID:0070046 )