congenital myopathy 22A, classic
MONDO:0957247Mondo
Findings
No curated finding names congenital myopathy 22A, classic 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 · Neonatal death · Third trimester onset
HPO, annotations 2026-09-02
Features
60 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.
- Axial muscle weaknessHPOHP:0003327
- 5 of 5 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- BradycardiaHPOHP:0001662
- 1 of 1 reported patient
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- EsodeviationHPOHP:0020045
- 1 of 1 reported patient
- External ophthalmoplegiaHPOHP:0000544
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Generalized amyotrophyHPOHP:0003700
- 5 of 5 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 1 of 1 reported patient
- GynecomastiaHPOHP:0000771
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 5 reported patients
- 2 of 2 reported patients · Congenital onset
Show the remaining 48
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Limb muscle weaknessHPOHP:0003690
- 5 of 5 reported patients
- Mildly elevated creatine kinaseHPOHP:0008180
- 2 of 2 reported patients
- Normal pressure hydrocephalusHPOHP:0002343
- 1 of 1 reported patient
- Open mouthHPOHP:0000194
- 1 of 1 reported patient
- OsteoporosisHPOHP:0000939
- 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.
- SCN4AHGNC:10591
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023