arthrogryposis, distal, type 12
MONDO:0957819Mondo
Findings
No curated finding names arthrogryposis, distal, type 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 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.
- Absent distal interphalangeal creasesHPOHP:0001032
- 5 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 5 of 5 reported patients
- Congenital finger flexion contracturesHPOHP:0005879
- 5 of 5 reported patients
- Hand muscle atrophyHPOHP:0009130
- 5 of 5 reported patients
- Tapered distal phalanges of fingerHPOHP:0009884
- 5 of 5 reported patients
- Achilles tendon contractureHPOHP:0001771
- 4 of 5 reported patients
- Ankle flexion contractureHPOHP:0006466
- 4 of 5 reported patients
- Knee flexion contractureHPOHP:0006380
- 4 of 5 reported patients
- Low-set earsHPOHP:0000369
- 4 of 5 reported patients
- Thoracic kyphosisHPOHP:0002942
- 4 of 5 reported patients
- Dental crowdingHPOHP:0000678
- 3 of 5 reported patients
- HypoesthesiaHPOHP:0033748
- 3 of 5 reported patients
Show the remaining 15
- ScoliosisHPOHP:0002650
- 3 of 5 reported patients
- Spinal rigidityHPOHP:0003306
- 3 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 4 reported patients
- High palateHPOHP:0000218
- 1 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 2 of 5 reported patients
- Palmar hyperhidrosisHPOHP:0006089
- 2 of 5 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.
- ADAMTS15HGNC:16305
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2023
Where it sits
- A kind of