Townes-Brocks syndrome 2
MONDO:0054582Mondo
Findings
No curated finding names Townes-Brocks syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- 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.
- MicrotiaHPOHP:0008551
- 5 of 5 reported patients
- Bifid uterusHPOHP:0000136
- 1 of 2 reported patients
- Crossed fused renal ectopiaHPOHP:0004736
- 2 of 5 reported patients
- Cupped earHPOHP:0000378
- 2 of 5 reported patients
- Overfolded helixHPOHP:0000396
- 2 of 5 reported patients
- Vesicoureteral refluxHPOHP:0000076
- 2 of 5 reported patients
- Anal atresiaHPOHP:0002023
- 2 of 6 reported patients
- HypospadiasHPOHP:0000047
- 1 of 3 reported patients
- Rectovaginal fistulaHPOHP:0000143
- 1 of 6 reported patients
- Spina bifida occultaHPOHP:0003298
- 1 of 6 reported patients
- ScoliosisHPOHP:0002650
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.
- DACT1HGNC:17748
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of