MeSH Browser

MeSH Supplementary: Waardenburg syndrome type 2
Unique ID: C536463
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536463
Entry Term(s): WS type 2 Waardenburg syndrome type 2; Waardenburg Syndrome, Type 2E; Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement; Waardenburg Syndrome, Type IIE
Registry Number: 0
Heading Mapped to: *Waardenburg Syndrome
Frequency: 55
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/20

Waardenburg syndrome type 2 MeSH Supplementary Concept Data 2023