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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

Excerpted from the GeneReview: CDK13-Related Disorder
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bret Bostwick
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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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