Most SLC26A4 mutations (97%, 38/39) were found in the EVA group and the EVA with MD group, with the exception of one single allelic mutation (c.919-2A>G) in the isolated MD group and two single allelic mutations (c.919-2A>G and c.1286C>A) in the group with other IEM. Here, SLC26A4 is linked to Menkes disease.