SLC26A4 and Menkes disease: This study showed that 24.1% (28/116) of patients diagnosed EVA with MD had biallelic mutations in SLC26A4, but only 11.1% (38/341) of patients with isolated EVA had biallelic mutations in SLC26A4. There was a statistically significant difference in mutation distribution between isolated EVA patients and EVA with MD patients, with the presence of mutations in SLC26A4 more frequently associated with the EVA with MD phenotype.