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Thymoma-hypogammaglobulinemia syndrome

ORPHA:169105 · Disease · Disorder

HPO 表現型(共 20 項)

Very frequent (99-80%)(3)

  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Mediastinal lymphadenopathyHP:0100721
  • ThymomaHP:0100522

Frequent (79-30%)(11)

  • Abnormal leukocyte morphologyHP:0001881
  • BronchiectasisHP:0002110
  • CoughHP:0012735
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • DyspneaHP:0002094
  • Fatigable weaknessHP:0003473
  • PtosisHP:0000508
  • Recurrent skin infectionsHP:0001581
  • Recurrent urinary tract infectionsHP:0000010
  • SinusitisHP:0000246

Occasional (29-5%)(6)

  • AnemiaHP:0001903
  • Aplasia/Hypoplasia of the thymusHP:0010515
  • Diabetes mellitusHP:0000819
  • DiarrheaHP:0002014
  • Recurrent respiratory infectionsHP:0002205
  • ThrombocytopeniaHP:0001873