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Classic multiminicore myopathy
ORPHA:324604 · Clinical subtype · Subtype of disorder
HPO 表現型（共 29 項）
Very frequent (99-80%)(1)
- Muscular dystrophyHP:0003560
Frequent (79-30%)(19)
- Abnormally high-pitched voiceHP:0001620
- Axial muscle weaknessHP:0003327
- Delayed gross motor developmentHP:0002194
- Failure to thriveHP:0001508
- Generalized amyotrophyHP:0003700
- Generalized hypotoniaHP:0001290
- High palateHP:0000218
- Increased muscle lipid contentHP:0009058
- Intermittent episodes of respiratory insufficiency due to muscle weaknessHP:0004889
- Limited neck flexionHP:0005991
- Multiple joint contracturesHP:0002828
- Muscle fiber atrophyHP:0100295
- Nocturnal hypoventilationHP:0002877
- Poor head controlHP:0002421
- Restrictive ventilatory defectHP:0002091
- ScoliosisHP:0002650
- Short statureHP:0004322
- Spinal rigidityHP:0003306
- Weakness of facial musculatureHP:0030319
Occasional (29-5%)(8)
- Congestive heart failureHP:0001635
- Hip dysplasiaHP:0001385
- Mandibular prognathiaHP:0000303
- MicroretrognathiaHP:0000308
- Mitral valve prolapseHP:0001634
- Pes planusHP:0001763
- Right ventricular failureHP:0001708
- Right ventricular hypertrophyHP:0001667
Excluded (0%)(1)
- Absent muscle fiber merosinHP:0030091