In the HGMD database (http://www.hgmd.cf.ac.uk/ac/all.php accessed on 28 September 2022), the c.441G>A p.(Met147Ile) variant of the SLC26A4 gene is associated with Pendred syndrome and enlarged vestibular aqueduct (EVA), as published by Jonard et al. (2010) [53]. This evidence concerns the gene SLC26A4 and Pendred syndrome.