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congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0112247
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
