SLC26A4 and Pendred syndrome: Recessive mutations in SLC26A4 are associated with Pendred syndrome (PDS, MIM 274600) which combines HL and goiter, and autosomal recessive deafness with enlarged vestibular aqueduct (EVA) (DFNB4, MIM 600791) and/or incomplete partition of the cochlea (i.e. Mondini dysplasia) [23,24].