arthrogryposis multiplex congenita 3, myogenic type
MONDO:0032778Mondo
Findings
No curated finding names arthrogryposis multiplex congenita 3, myogenic type 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
- Progressive · Fetal onset
HPO, annotations 2026-09-02
Features
24 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.
- Adducted thumbHPOHP:0001181
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 3 of 3 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 2 of 2 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 2 of 2 reported patients
- Flexion contracture of fingerHPOHP:0012785
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
Show the remaining 12
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- Talipes equinovarusHPOHP:0001762
- 2 of 2 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 2 of 3 reported patients
- AreflexiaHPOHP:0001284
- 1 of 2 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 2 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.
- SYNE1HGNC:17089
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: arthrogryposis multiplex congenita 3, myogenic type
- Also called
- AMCMarthrogryposis multiplex congenita, myogenic type