SOX10 and PCWH syndrome: A further example can be shown in the clinical presentation of individual 1, who had an additional SOX10 pathogenic variant (c.1090C > T, p.Gln364Ter) associated with PCWH syndrome significantly contrasts to individual 3 who had multiple bone deformities, normal brain MRI, and a homozygous VUS (c.1158-3C > G) in GALNS. Some of these severe clinical features associated with SOX10 and GALNS overlap with the OMIM descriptions.