Term Name: | uveal coloboma-cleft lip and palate-intellectual disability |
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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 |
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. |
Ontology: | Human Disease [DOID:0111249] ( DOID:0111249 ) |