Human genes for uveal coloboma-cleft lip and palate-intellectual disability
Uveal coloboma-cleft lip and palate-intellectual disability [DOID:0111249]
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.
Synonyms: uveal coloboma-cleft lip and palate-intellectual disability, DOID:0111249, uveal colobomacleft lip and palateintellectual disability, uveal coloboma-cleft lip and palate-intellectual disabilities, COB1 ...