Term Name: | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
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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. |
Ontology: | Human Disease [DOID:0112247] ( DOID:0112247 ) |