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Epidermolysis bullosa simplex with muscular dystrophy

ORPHA:257 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(12)

  • AlopeciaHP:0001596
  • AphasiaHP:0002381
  • EcholaliaHP:0010529
  • Hyperconvex fingernailsHP:0001812
  • Hypoplastic fingernailHP:0001804
  • Muscle flaccidityHP:0010547
  • MutismHP:0002300
  • MyopathyHP:0003198
  • Oculomotor nerve palsyHP:0012246
  • OphthalmoparesisHP:0000597
  • OphthalmoplegiaHP:0000602
  • Skin vesicleHP:0200037

Frequent (79-30%)(5)

  • Abnormal dental enamel morphologyHP:0000682
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Dermal atrophyHP:0004334
  • PapuleHP:0200034
  • PtosisHP:0000508

Occasional (29-5%)(2)

  • Fatigable weaknessHP:0003473
  • FatigueHP:0012378