Coffin-Siris syndrome 1

Term ID

DOID:0070042

Synonyms

• autosomal dominant mental retardation 12
• CSS1
• fifth digit syndrome
• MRD12

Definition

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. https://www.ncbi.nlm.nih.gov/pubmed/22405089

References

• OMIM:135900

Ontology

Human Disease   ( DOID:0070042 )