congenital myopathy 20
MONDO:0957215Mondo
Findings
No curated finding names congenital myopathy 20 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
- Juvenile onset · Antenatal onset
HPO, annotations 2026-09-02
Features
35 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Difficulty runningHPOHP:0009046
- 1 of 1 reported patient
- Gowers signHPOHP:0003391
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Narrow faceHPOHP:0000275
- 1 of 1 reported patient
- Nemaline bodiesHPOHP:0003798
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- Scapular wingingHPOHP:0003691
- 1 of 1 reported patient
- Type 1 muscle fiber predominanceHPOHP:0003803
- 1 of 1 reported patient
- Weakness of facial musculatureHPOHP:0030319
- 1 of 1 reported patient
Show the remaining 23
- High palateHPOHP:0000218
- 2 of 3 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 2 reported patients
- Broad foreheadHPOHP:0000337
- 1 of 2 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 2 reported patients
- Congenital contractureHPOHP:0002803
- 1 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 2 reported patients