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Danon disease

ORPHA:34587 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(6)

  • Cardiorespiratory arrestHP:0006543
  • Gait disturbanceHP:0001288
  • Hypertrophic cardiomyopathyHP:0001639
  • Muscle flaccidityHP:0010547
  • PalpitationsHP:0001962
  • SyncopeHP:0001279

Frequent (79-30%)(15)

  • Blurred visionHP:0000622
  • Chest painHP:0100749
  • CoughHP:0012735
  • DyspneaHP:0002094
  • Elevated circulating creatine kinase activityHP:0003236
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Intellectual disabilityHP:0001249
  • Muscle weaknessHP:0001324
  • MyopiaHP:0000545
  • Progressive proximal muscle weaknessHP:0009073
  • Reduced visual acuityHP:0007663
  • Skeletal myopathyHP:0003756
  • Specific learning disabilityHP:0001328
  • WheezingHP:0030828
  • Wolff-Parkinson-White syndromeHP:0001716

Occasional (29-5%)(9)

  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • DepressionHP:0000716
  • HepatomegalyHP:0002240
  • Motor delayHP:0001270
  • NyctalopiaHP:0000662
  • PhotophobiaHP:0000613
  • RetinopathyHP:0000488

Very rare (<4-1%)(2)

  • Dilated cardiomyopathyHP:0001644
  • DysmetriaHP:0001310