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Intermediate nemaline myopathy

ORPHA:171433 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(3)

  • Generalized muscle weaknessHP:0003324
  • Nemaline bodiesHP:0003798
  • Severe muscular hypotoniaHP:0006829

Frequent (79-30%)(16)

  • Abnormal thorax morphologyHP:0000765
  • Decreased fetal movementHP:0001558
  • DysphagiaHP:0002015
  • EMG: myopathic abnormalitiesHP:0003458
  • Facial palsyHP:0010628
  • Flexion contractureHP:0001371
  • Gait disturbanceHP:0001288
  • HypokinesiaHP:0002375
  • HyporeflexiaHP:0001265
  • Motor delayHP:0001270
  • Multiple prenatal fracturesHP:0005855
  • Myopathic faciesHP:0002058
  • PolyhydramniosHP:0001561
  • Respiratory failureHP:0002878
  • Skeletal muscle atrophyHP:0003202
  • Type 1 muscle fiber predominanceHP:0003803

Occasional (29-5%)(8)

  • AreflexiaHP:0001284
  • Facial diplegiaHP:0001349
  • High, narrow palateHP:0002705
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • OphthalmoplegiaHP:0000602
  • Premature birthHP:0001622

Very rare (<4-1%)(1)

  • Arthrogryposis multiplex congenitaHP:0002804

Excluded (0%)(1)

  • CardiomyopathyHP:0001638