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uveal coloboma-cleft lip and palate-intellectual disability
Summary
- Synonym
-
- COB1
- Uveal coloboma-cleft lip/palate-mental retardation syndrome
- coloboma-microphthalmos syndrome
- coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
- ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation
- Definition
- A syndrome 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111249
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
