branchiootorenal syndrome 2
Findings
No curated finding names branchiootorenal syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.
Definition from the Mondo Disease Ontology (MONDO:0012575), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
11 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
- 4 of 4 reported patients
- Branchial fistulaHPOHP:0009795
- 3 of 4 reported patients
- Renal dysplasiaHPOHP:0000110
- 2 of 4 reported patients
- Bilateral renal hypoplasiaHPOHP:0012584
- 1 of 4 reported patients
- Hemifacial hypoplasiaHPOHP:0011332
- 1 of 4 reported patients
- Preauricular pitHPOHP:0004467
- 1 of 4 reported patients
- Preauricular skin tagHPOHP:0000384
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.
- SIX5HGNC:10891
- Definitive · G2P · Autosomal dominant · 2015
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Disputed Evidence · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: branchiootorenal syndrome 2
- Also called
- branchio-oto-renal syndrome caused by mutation in SIX5branchiootorenal syndrome type 2SIX5 branchio-oto-renal syndrome