Waardenburg syndrome type 2D
MONDO:0012144Mondo
Findings
No curated finding names Waardenburg syndrome type 2D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012144), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SNAI2HGNC:11094
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Waardenburg syndrome type 2D
- Also called
- SNAI2 Waardenburg syndrome type 2Waardenburg syndrome type 2 caused by mutation in SNAI2Waardenburg syndrome type IIDWS2D