FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ID (Ontology) DOID:0112247 (Human Disease)
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.
Also Known As "CDK13-Related CHDFIDD" ; "CDK13-Related Disorder" ; "CHDFIDD"
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 Genes
 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder       1
 for disease ribbon | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder       1
 model of | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "CDK13-Related CHDFIDD" EXACT
    "CDK13-Related Disorder" EXACT
    "CHDFIDD" EXACT OMO:0003012
Secondary IDs
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MIM:617360