Search Ontology:
Human Disease

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

Term ID
DOID:0112247
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
Ontology
Human Disease   ( DOID:0112247 )
Relationships
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Genes Involved
Zebrafish Models