arthrogryposis multiplex congenita 5
MONDO:0100218Mondo
Findings
No curated finding names arthrogryposis multiplex congenita 5 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
- Death in infancy
HPO, annotations 2026-09-02
Features
55 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.
- 11 pairs of ribsHPOHP:0000878
- 1 of 1 reported patient
- AcanthocytosisHPOHP:0001927
- 1 of 1 reported patient
- Adducted thumbHPOHP:0001181
- 1 of 1 reported patient
- AkinesiaHPOHP:0002304
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 2 of 2 reported patients
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Cardiac arrestHPOHP:0001695
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 4 of 4 reported patients
- Flexion contractureHPOHP:0001371
- 2 of 2 reported patients
Show the remaining 43
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- HammertoeHPOHP:0001765
- 5 of 5 reported patients
- Hand clenchingHPOHP:0001188
- 4 of 4 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.
- TOR1AHGNC:3098
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
1 name
Resolves to: arthrogryposis multiplex congenita 5
- Also called
- AMC5