arthrogryposis, distal, type 1C
MONDO:0030847Mondo
Findings
No curated finding names arthrogryposis, distal, type 1C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
29 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.
- Camptodactyly of fingerHPOHP:0100490
- 14 of 15 reported patients
- Wrist flexion contractureHPOHP:0001239
- 11 of 15 reported patients
- Narrow mouthHPOHP:0000160
- 10 of 15 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 5 reported patients · Male
- Talipes equinovarusHPOHP:0001762
- 9 of 16 reported patients
- Rocker bottom footHPOHP:0001838
- 5 of 10 reported patients
- Short statureHPOHP:0004322
- 5 of 10 reported patients
- Limited neck range of motionHPOHP:0000466
- 4 of 9 reported patients
- Hip contractureHPOHP:0003273
- 6 of 15 reported patients
- Knee flexion contractureHPOHP:0006380
- 6 of 15 reported patients
- ScoliosisHPOHP:0002650
- 6 of 15 reported patients
- Elbow flexion contractureHPOHP:0002987
- 4 of 12 reported patients
Show the remaining 17
- Limited head rotationHPOHP:0033357
- 4 of 15 reported patients
- Thin vermilion borderHPOHP:0000233
- 2 of 8 reported patients
- Decreased body weightHPOHP:0004325
- 3 of 14 reported patients
- Short neckHPOHP:0000470
- 2 of 10 reported patients
- Camptodactyly of toeHPOHP:0001836
- 2 of 13 reported patients
- Cleft lipHPOHP:0410030
- 2 of 14 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.
- MYL11HGNC:29824
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: arthrogryposis, distal, type 1C
- Also called
- DA1C