branchiootic syndrome 3
MONDO:0012025Mondo
Findings
No curated finding names branchiootic syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012025), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Commissural lip pitHPOHP:0002710
- Preauricular pitHPOHP:0004467
- Sensorineural hearing impairmentHPOHP:0000407
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.
- SIX1HGNC:10887
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: branchiootic syndrome 3
- Also called
- branchiootic syndrome caused by mutation in SIX1branchiootic syndrome type 3SIX1 branchiootic syndrome