Coffin-Siris syndrome 3

Term ID

DOID:0070045

Synonyms

• autosomal dominant mental retardation 15
• CSS3
• MRD15

Definition

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. https://www.ncbi.nlm.nih.gov/pubmed/22426308

References

• OMIM:614608

Ontology

Human Disease   ( DOID:0070045 )