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Thiamine-responsive megaloblastic anemia syndrome

ORPHA:49827 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(9)

  • AnorexiaHP:0002039
  • Diabetes mellitusHP:0000819
  • DiarrheaHP:0002014
  • HeadacheHP:0002315
  • LethargyHP:0001254
  • Megaloblastic anemiaHP:0001889
  • PallorHP:0000980
  • ParesthesiaHP:0003401
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(2)

  • Optic atrophyHP:0000648
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(9)

  • Atrial septal defectHP:0001631
  • Cardiac arrestHP:0001695
  • Congestive heart failureHP:0001635
  • Paroxysmal atrial tachycardiaHP:0006671
  • Retinal dystrophyHP:0000556
  • Short statureHP:0004322
  • StrokeHP:0001297
  • Ventricular septal defectHP:0001629
  • Visual lossHP:0000572