DMXL2 and polyendocrine-polyneuropathy syndrome: Pathogenic mutations in the DMXL2 gene cause the autosomal dominant deafness type 71 (OMIM # 617605), and the autosomal recessive developmental and epileptic encephalopathy type 81 (OMIM # 618663) and polyendocrine-polyneuropathy syndrome (OMIM # 616113) [24–26].