SOX10 variants are known to cause WS types II and IV (Hirschsprung disease as an additional finding) (MIM 613266), PCWH (peripheral demyelinating neuropathy, central demyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease) (MIM 609136), and Kallmann syndrome with deafness25. This evidence concerns the gene SOX10 and demyelinating polyneuropathy.