arthrogryposis, distal, IIa 11
MONDO:0031045Mondo
Findings
No curated finding names arthrogryposis, distal, IIa 11 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
7 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.
- CamptodactylyHPOHP:0012385
- 12 of 12 reported patients
- Absent proximal finger flexion creasesHPOHP:0006077
- 10 of 11 reported patients
- Limited pronation/supination of forearmHPOHP:0006394
- 7 of 11 reported patients
- Calcaneovalgus deformityHPOHP:0001848
- 0 of 12 reported patients
- Metatarsus adductusHPOHP:0001840
- 0 of 12 reported patients
- Rocker bottom footHPOHP:0001838
- 0 of 12 reported patients
- Talipes equinovarusHPOHP:0001762
- 0 of 12 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.
- METHGNC:7029
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: arthrogryposis, distal, IIa 11
- Also called
- DA11