arthrogryposis multiplex congenita 2, neurogenic type
Findings
No curated finding names arthrogryposis multiplex congenita 2, neurogenic type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
Definition from the Mondo Disease Ontology (MONDO:0008823), read 2026-09-29. CC BY 4.0.
Features
33 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.
- Flexion contractureHPOHP:0001371
- Obligate (100% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- Very frequent (80% to 99% of cases)
- Ankle flexion contractureHPOHP:0006466
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Elbow flexion contractureHPOHP:0002987
- Frequent (30% to 79% of cases)
- Knee flexion contractureHPOHP:0006380
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Frequent (30% to 79% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Upper limb muscle weaknessHPOHP:0003484
- Frequent (30% to 79% of cases)
- Wrist flexion contractureHPOHP:0001239
- Frequent (30% to 79% of cases)
- Abnormal dermatoglyphicsHPOHP:0007477
- Occasional (5% to 29% of cases)
Show the remaining 21
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Acetabular dysplasiaHPOHP:0008807
- Occasional (5% to 29% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Occasional (5% to 29% of cases)
- Breech presentationHPOHP:0001623
- Occasional (5% to 29% of cases)
- Decreased fetal movementHPOHP:0001558
- Occasional (5% to 29% of cases)
- Equinovarus deformityHPOHP:0008110
- Occasional (5% to 29% of cases)
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.
- ERGIC1HGNC:29205
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
2 names
Resolves to: arthrogryposis multiplex congenita 2, neurogenic type
- Also called
- AMCNneurogenic arthrogryposis multiplex congenita