uveal coloboma-cleft lip and palate-intellectual disability (DOID:0111249)
Alliance: disease page
Synonyms: COB1; 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; Uveal coloboma-cleft lip/palate-mental retardation syndrome
Alt IDs: OMIM:120433, MESH:C535971, ORDO:1473, UMLS_CUI:C0795902
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.