congenital myopathy 10b, mild variant
MONDO:0859515Mondo
Findings
No curated finding names congenital myopathy 10b, mild variant 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 · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
38 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.
- Abnormal circulating creatine kinase activityHPOHP:0040081
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Axial muscle weaknessHPOHP:0003327
- 4 of 4 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- Elbow contractureHPOHP:0034391
- 3 of 4 reported patients · Young adult onset
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Fatty replacement of skeletal muscleHPOHP:0012548
- 4 of 4 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Generalized limb muscle atrophyHPOHP:0009055
- 1 of 1 reported patient
- Generalized muscle weaknessHPOHP:0003324
- 1 of 1 reported patient
Show the remaining 26
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HyperlordosisHPOHP:0003307
- 1 of 1 reported patient
- Hypernasal speechHPOHP:0001611
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased endomysial connective tissueHPOHP:0100297
- 3 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient