Pathogenic SLC26A4 variants have been linked to non-syndromic deafness DFNB4 (MIM #600,791) and Pendred syndrome (PS, MIM #274,600), both of which involve an enlarged vestibular aqueduct and progressive/fluctuating sensorineural hearing impairment (SNHI). The gene discussed is SLC26A4; the disease is Pendred syndrome.