Bethlem myopathy 1C
MONDO:0958234Mondo
Findings
No curated finding names Bethlem myopathy 1C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- Joint contractureHPOHP:0034392
- 1 of 2 reported patients
- KyphosisHPOHP:0002808
- 1 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 2 reported patients
Where it sits
- A kind of