YAP1 function has not been fully characterized.

Uveal coloboma-cleft lip and palate-intellectual disability is associated with mutations in the YAP1 gene on chromosome 11.

Genetic testing for YAP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for uveal coloboma-cleft lip and palate-intellectual disability has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for uveal coloboma-cleft lip and palate-intellectual disability.

86 publications have been identified in PubMed for uveal coloboma-cleft lip and palate-intellectual disability. Research spans Review / Meta-Analysis (30%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (21%).

Recent Publications

• Stylianou T (2026). [PMID: 39901495](https://pubmed.ncbi.nlm.nih.gov/39901495/). *The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association*. [Epidemiology / Natural History]

• Parry JA (2026). [PMID: 41243697](https://pubmed.ncbi.nlm.nih.gov/41243697/). *Community dentistry and oral epidemiology*. [Review / Meta-Analysis]

• Martín-González AM (2025). [PMID: 40864554](https://pubmed.ncbi.nlm.nih.gov/40864554/). *Cell reports*. [Basic Science / Preclinical]

• Medyanik AD (2025). [PMID: 39858526](https://pubmed.ncbi.nlm.nih.gov/39858526/). *Biomolecules*. [Basic Science / Preclinical]

• Cunnane KA (2025). [PMID: 40494056](https://pubmed.ncbi.nlm.nih.gov/40494056/). *Pediatric neurology*. [Review / Meta-Analysis]

• Atterton C (2025). [PMID: 40353642](https://pubmed.ncbi.nlm.nih.gov/40353642/). *Disease models &amp; mechanisms*. [Epidemiology / Natural History]

• Kaya E (2025). [PMID: 40910928](https://pubmed.ncbi.nlm.nih.gov/40910928/). *Journal of clinical research in pediatric endocrinology*. [Case Report / Case Series]

• Wang Y (2025). [PMID: 40839403](https://pubmed.ncbi.nlm.nih.gov/40839403/). *The Journal of clinical investigation*. [Basic Science / Preclinical]

• Guhra M (2025). [PMID: 39240313](https://pubmed.ncbi.nlm.nih.gov/39240313/). *Der Nervenarzt*. [Review / Meta-Analysis]

• Gürsoy S (2025). [PMID: 39951932](https://pubmed.ncbi.nlm.nih.gov/39951932/). *Pediatric neurology*. [Basic Science / Preclinical]