congenital myopathy 26
MONDO:0979229Mondo
Findings
No curated finding names congenital myopathy 26 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
25 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.
- AstheniaHPOHP:0025406
- 1 of 1 reported patient
- Diminished deep tendon reflexHPOHP:0001315
- 2 of 2 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 2 of 2 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 2 of 2 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 2 of 2 reported patients
- High palateHPOHP:0000218
- 2 of 2 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- OphthalmoparesisHPOHP:0000597
- 1 of 1 reported patient
- Proximal lower limb muscle weaknessHPOHP:0008994
- 2 of 2 reported patients
Show the remaining 13
- Proximal upper limb muscle weaknessHPOHP:0008997
- 2 of 2 reported patients
- Rimmed vacuolesHPOHP:0003805
- 2 of 2 reported patients
- Scapular wingingHPOHP:0003691
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 2 of 2 reported patients
- Z-band streamingHPOHP:0020203
- 2 of 2 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 2 reported patients