muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
MONDO:0029135Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 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
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
9 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.
- Calf muscle hypertrophyHPOHP:0008981
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 3 reported patients
- Distal amyotrophyHPOHP:0003693
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- Gowers signHPOHP:0003391
- 1 of 3 reported patients
- Motor delayHPOHP:0001270
- 1 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 3 reported patients
Where it sits
Other names
1 name
Resolves to: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
- Also called
- LGMD-POMGNT2 related myopathy