congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

Summary

DOID:0112247 - congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

Disease Ontology Definition:A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1.

Synonyms: CDK13-Related CHDFIDD, CDK13-Related Disorder, CHDFIDD

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cdk13

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndrome (is_a)