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Summary Literature (0)
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 CDK13 on chromosome 7p14.1.

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

Xenbase Genes : cdk13


OMIM:
OMIM:617360 - CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD

Other Model Organisms: AGR, 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)