brachydactyly type A1C
MONDO:0014032Mondo
Findings
No curated finding names brachydactyly type A1C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014032), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- Short 1st metacarpalHPOHP:0010034
- 4 of 4 reported patients
- Short middle phalanx of the 2nd fingerHPOHP:0009577
- 4 of 4 reported patients
- Short middle phalanx of the 3rd fingerHPOHP:0009439
- 4 of 4 reported patients
- Short middle phalanx of the 4th fingerHPOHP:0009295
- 4 of 4 reported patients
- Short middle phalanx of the 5th fingerHPOHP:0004220
- 4 of 4 reported patients
- Bilateral talipes equinovarus
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.
- GDF5HGNC:4220
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: brachydactyly type A1C
- Also called
- BDA1Cbrachydactyly type A1 caused by mutation in GDF5GDF5 brachydactyly type A1