Term Name: uveal coloboma-cleft lip and palate-intellectual disability
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 )

Relationships
is a type of: autosomal dominant disease syndrome