craniofacial abnormalities
Haploinsufficiency for human EYA1, a homologue of the Drosophila melanogaster gene eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR) syndrome and branchio-oto (BO) syndrome, which are characterized by craniofacial abnormalities and hearing loss with (BOR) or without (BO) kidney defects.
Haploinsufficiency for human <span class="gene" id="10471511-1-29-33">EYA1</span>, a homologue of the Drosophila melanogaster gene eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR) syndrome and branchio-oto (BO) syndrome, which are characterized by <span class="disease" id="10471511-1-241-267">craniofacial abnormalities</span> and hearing loss with (BOR) or without (BO) kidney defects.