Townes-Brocks syndrome 1
MONDO:0054581Mondo
Findings
No curated finding names Townes-Brocks syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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
- 4 of 4 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 17 of 21 reported patients
- Broad thumbHPOHP:0011304
- 3 of 4 reported patients
- Anal atresiaHPOHP:0002023
- 105 of 158 reported patients
- Triphalangeal thumbHPOHP:0001199
- 9 of 21 reported patients
- Global developmental delayHPOHP:0001263
- 23 of 89 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 4 reported patients
- Lop earHPOHP:0000394
- 1 of 4 reported patients
- Rectoperineal fistulaHPOHP:0004792
- 1 of 4 reported patients
- Rectovaginal fistulaHPOHP:0000143
- 1 of 4 reported patients
- Small for gestational ageHPOHP:0001518
- 1 of 4 reported patients
- Tethered cordHPOHP:0002144
- 2 of 8 reported patients
Show the remaining 12
- HypospadiasHPOHP:0000047
- 3 of 17 reported patients
- 1-2 toe syndactylyHPOHP:0010711
- 1 of 8 reported patients
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- 1 of 8 reported patients
- 4-5 toe syndactylyHPOHP:0004692
- 1 of 8 reported patients
- Choanal atresiaHPOHP:0000453
- 1 of 8 reported patients
- HoloprosencephalyHPOHP:0001360
- 1 of 8 reported patients
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.
- SALL1HGNC:10524
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Townes-Brocks syndrome 1
- Also called
- townes-brocks branchiootorenal-like syndrome