Waardenburg syndrome type 4B
MONDO:0013201Mondo
Findings
No curated finding names Waardenburg syndrome type 4B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.
Definition from the Mondo Disease Ontology (MONDO:0013201), 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.
- EDN3HGNC:3178
- Definitive · G2P · Autosomal dominant · 2025
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Semidominant · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2023
- Limited · ClinGen · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Waardenburg syndrome type 4B
- Also called
- EDN3 Waardenburg syndromeWaardenburg syndrome caused by mutation in EDN3WS4B