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GTR Home > Conditions/Phenotypes > Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

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

Summary

CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech). Other common findings are recognizable facial features in some individuals, behavioral problems (autism spectrum disorder or autistic traits/stereotypies, attention-deficit/hyperactivity disorder), feeding difficulties in infancy, structural cardiac defects, and seizures. [from GeneReviews]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDC2L, CDC2L5, CHDFIDD, CHED, hCDK13, CDK13
    Summary: cyclin dependent kinase 13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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