Waardenburg syndrome type 2 [Supplementary Concept]
A form of Waardenburg Syndrome that is caused by mutations in the SOX10 gene. In addition to pigmentation and hearing abnormalities, affected individuals with type IIE may also experience mental impairment, myelination defects, and ATAXIA. OMIM: 611584
Date introduced: August 25, 2010
MeSH Unique ID: C536463
Heading Mapped to:
Entry Terms:
- WS type 2 Waardenburg syndrome type 2
- Waardenburg Syndrome, Type 2E
- Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement
- Waardenburg Syndrome, Type IIE