POMGNT2-related limb-girdle muscular dystrophy R24
MONDO:0035432Mondo
Findings
No curated finding names POMGNT2-related limb-girdle muscular dystrophy R24 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
13 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
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- MyositisHPOHP:0100614
- Frequent (30% to 79% of cases)
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
- Biliary atresiaHPOHP:0005912
- Occasional (5% to 29% of cases)
- Decreased circulating vitamin K concentrationHPOHP:0011892
- Occasional (5% to 29% of cases)
- Difficulty runningHPOHP:0009046
- Occasional (5% to 29% of cases)
- Difficulty standingHPOHP:0003698
- Occasional (5% to 29% of cases)
Show the remaining 1
- Skeletal muscle atrophyHPOHP:0003202
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: POMGNT2-related limb-girdle muscular dystrophy R24
- Also called
- LGMD type R24limb-girdle muscular dystrophy type R24POMGNT2-related LGMD R24POMGNT2-related muscular dystrophy