Waardenburg syndrome type 2
Findings
No curated finding names Waardenburg syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
Definition from the Mondo Disease Ontology (MONDO:0019517), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- Heterochromia iridisHPOHP:0001100
- Frequent (30% to 79% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- White forelockHPOHP:0002211
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
- Abnormality of the pulmonary arteryHPOHP:0004414
- Occasional (5% to 29% of cases)
- Aganglionic megacolonHPOHP:0002251
- Occasional (5% to 29% of cases)
- PtosisHPOHP:0000508
- Occasional (5% to 29% of cases)
- TelecanthusHPOHP:0000506
- Occasional (5% to 29% of cases)
Genes
6 genes
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.
- MITFHGNC:7105
- Definitive · ClinGen · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- EDNRBHGNC:3180
- Supportive · Orphanet · Autosomal dominant · 2021
- KITLGHGNC:6343
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2016
- SNAI2HGNC:11094
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Waardenburg syndrome type 2
- Also called
- Waardenburg syndrome type IIWS2