CLINICAL CHARACTERISTICS: Almost all individuals with CDK13 -related disorder reported to date have developmental delay or intellectual disability ranging from mild to severe. About two thirds have behavioral issues. A majority of affected individuals have feeding difficulties, including slow feeding, with a minority requiring gastrostomy tube feeding. About 40% of males exhibit cryptorchidism....
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change for audiologists — while CDK13-related disorder may include hearing features, this GeneReviews entry is a genetic reference resource, not a clinical audiology study, and introduces no new audiology-specific guidance.
Audiologists working with children who have unexplained developmental delay and intellectual disability should be aware of rare genetic syndromes like CDK13-related disorder, as hearing loss may be a co-occurring feature warranting evaluation.
- 01CDK13-related disorder is a rare genetic condition linked to variants in the CDK13 gene.
- 02Core features include developmental delay and intellectual disability.
- 03The GeneReviews entry was updated September 2026 by the University of Washington.
- 04GeneReviews entries are curated expert summaries, not primary research studies.
- 05Hearing involvement in CDK13-related disorder may be relevant for audiologists seeing pediatric patients with complex genetic profiles.
CDK13-related disorder is associated with developmental delay and intellectual disability.
guidelinesupported- PMID
- 30702837
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Individuals with pathogenic variants in CDK13 presenting with developmental delay and intellectual disability
- Intervention
- CDK13 gene variant characterization and clinical description
Primary outcomes
Clinical features associated with CDK13-related disorder; Genotype-phenotype correlations