# uveal coloboma-cleft lip and palate-intellectual disability

> autosomal dominant disease characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has material basis in heterozygous mutation in YAP1 on 11q22.1

**Wikidata**: [Q55780435](https://www.wikidata.org/wiki/Q55780435)  
**Source**: https://4ort.xyz/entity/uveal-coloboma-cleft-lip-and-palate-intellectual-disability


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects
5. UMLS 2023