One patient was homozygous for both NM_000441.2:c.919-2A>G in SLC26A4 and NM_004004.6:c.109G>A in GJB2. This patient was clinically diagnosed with deafness and enlarged vestibular aqueducts, a phenotype which can be caused by deficiency of the two genes together. The gene discussed is SLC26A4; the disease is deafness.