arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
MONDO:0060486Mondo
Findings
No curated finding names arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 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
- Stillbirth · Fetal onset
HPO, annotations 2026-09-02
Features
28 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.
- Ankle flexion contractureHPOHP:0006466
- 3 of 3 reported patients
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 5 of 5 reported patients
- Decreased fetal movementHPOHP:0001558
- 9 of 9 reported patients
- Dental crowdingHPOHP:0000678
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 6 of 6 reported patients
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Hip contractureHPOHP:0003273
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 16
- Internally rotated shouldersHPOHP:0006659
- 1 of 1 reported patient
- Knee flexion contractureHPOHP:0006380
- 5 of 5 reported patients
- MicrognathiaHPOHP:0000347
- 4 of 4 reported patients
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient · Infantile onset
- Protruding earHPOHP:0000411
- 1 of 1 reported patient
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.
- LGI4HGNC:18712
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
- Also called
- arthrogryposis multiplex congenita, neurogenic, with myelin defect