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Congenital amegakaryocytic thrombocytopenia

ORPHA:3319 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(2)

  • Abnormal hemoglobinHP:0011902
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(7)

  • Abnormal vertebral body morphologyHP:0003312
  • AnemiaHP:0001903
  • Coarse facial featuresHP:0000280
  • Melanocytic nevusHP:0000995
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322

Occasional (29-5%)(2)

  • Abnormal cardiac septum morphologyHP:0001671
  • Decreased skull ossificationHP:0004331