classic multiminicore myopathy
MONDO:0017939Mondo
Findings
No curated finding names classic multiminicore myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
28 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.
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Frequent (30% to 79% of cases)
- Axial muscle weaknessHPOHP:0003327
- Frequent (30% to 79% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Generalized amyotrophyHPOHP:0003700
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Increased muscle lipid contentHPOHP:0009058
- Frequent (30% to 79% of cases)
- Intermittent episodes of respiratory insufficiency due to muscle weaknessHPOHP:0004889
- Frequent (30% to 79% of cases)
- Limited neck flexionHPOHP:0005991
- Frequent (30% to 79% of cases)
- Multiple joint contracturesHPOHP:0002828
- Frequent (30% to 79% of cases)
Reported absent (1)
- Absent muscle fiber merosinHPOHP:0030091
Show the remaining 16
- Muscle fiber atrophyHPOHP:0100295
- Frequent (30% to 79% of cases)
- Nocturnal hypoventilationHPOHP:0002877
- Frequent (30% to 79% of cases)
- Poor head controlHPOHP:0002421
- Frequent (30% to 79% of cases)
- Restrictive ventilatory defectHPOHP:0002091
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Where it sits
- A kind of