Pendred’s syndrome (PDS, OMIM #274600) was confirmed in one patient (autosomal recessive HL with bilateral EVA combined with nodular goiter; patient code 1091) with a homozygous variant c.2027T>A p.(Leu676Gln) in the SLC26A4 gene (Table 2). Here, SLC26A4 is linked to Pendred syndrome.