Waardenburg syndrome type 2E
Findings
No curated finding names Waardenburg syndrome type 2E 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 SOX10 gene.
Definition from the Mondo Disease Ontology (MONDO:0012698), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Blue iridesHPOHP:0000635
- 1 of 1 reported patient
- Fundus hypopigmentationHPOHP:0007894
- 1 of 1 reported patient
- Iris hypopigmentationHPOHP:0007730
- 1 of 1 reported patient
- Ocular albinismHPOHP:0001107
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- White forelockHPOHP:0002211
- 1 of 1 reported patient
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.
- SOX10HGNC:11190
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Waardenburg syndrome type 2E
- Also called
- SOX10 Waardenburg syndrome type 2Waardenburg syndrome type 2 caused by mutation in SOX10WS2E