Waardenburg Syndrome, Type 1 (WS1)

Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type 1, is related to waardenburg syndrome, type 4a and peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Neural crest differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and mandibular prognathia