SOX10 and Hirschsprung disease: Individual 1 had a heterozygous pathogenic SOX10 (NM_006941.4:c.1090C > T, p.Gln364Ter) variant, likely accounting for hearing impairment, ocular albinism, and Hirschsprung disease as part of PCWH syndrome (peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschprung disease) (OMIM #609136) [27].