zebra body myopathy
MONDO:0019949Mondo
Findings
No curated finding names zebra body myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
22 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.
- Autophagic vacuolesHPOHP:0003736
- Very frequent (80% to 99% of cases)
- Axial muscle weaknessHPOHP:0003327
- Very frequent (80% to 99% of cases)
- Decreased fetal movementHPOHP:0001558
- Very frequent (80% to 99% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- Facial palsyHPOHP:0010628
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Gowers signHPOHP:0003391
- Very frequent (80% to 99% of cases)
- Handgrip myotoniaHPOHP:0012899
- Very frequent (80% to 99% of cases)
- Limb-girdle muscular dystrophyHPOHP:0006785
- Very frequent (80% to 99% of cases)
Show the remaining 10
- Muscle fiber splittingHPOHP:0003555
- Very frequent (80% to 99% of cases)
- Myofibrillar myopathyHPOHP:0003715
- Very frequent (80% to 99% of cases)
- Neck muscle weaknessHPOHP:0000467
- Very frequent (80% to 99% of cases)
- Nemaline bodiesHPOHP:0003798
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Very frequent (80% to 99% 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.
- ACTA1HGNC:129
- Supportive · Orphanet · Unknown · 2021
Where it sits
- A kind of