ZFIN Human Disease: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

OBO ID: DOID:0112247

Term Name:	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		Search Ontology:
Synonyms:	CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD
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. (3)
References:	OMIM:617360
Ontology:	Human Disease ( DOID:0112247 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CDK13	cdk13	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None