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Summary Literature (0)
DOID:0070046 - Coffin-Siris syndrome 4


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2.

Synonyms: CSS4, MRD16, autosomal dominant mental retardation 16

In OMIM:
OMIM:614609 - COFFIN-SIRIS SYNDROME 4; CSS4

In Mondo Disease Ontology:
MONDO:0013821 - intellectual disability, autosomal dominant 16

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : smarca4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant non-syndromic intellectual disability (is_a)