Coffin-Siris syndrome 2

Term ID

DOID:0070044

Synonyms

• autosomal dominant mental retardation 14
• CSS2
• MRD14

Definition

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. https://www.ncbi.nlm.nih.gov/pubmed/22426308

References

• MIM:614607

Ontology

Human Disease   ( DOID:0070044 )