← 返回搜尋

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

ORPHA:508542 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(2)

  • AnemiaHP:0001903
  • Bone marrow hypocellularityHP:0005528

Frequent (79-30%)(17)

  • Abnormal facial shapeHP:0001999
  • Cerebral hypoplasiaHP:0006872
  • Coarse facial featuresHP:0000280
  • Congestive heart failureHP:0001635
  • Decreased total B cell countHP:0010976
  • Decreased total leukocyte countHP:0001882
  • Decreased total lymphocyte countHP:0001888
  • Decreased total neutrophil countHP:0001875
  • Erythroid dysplasiaHP:0031688
  • Intellectual disabilityHP:0001249
  • Megakaryocyte dysplasiaHP:0031689
  • MyelodysplasiaHP:0002863
  • Neurodevelopmental delayHP:0012758
  • Recurrent upper respiratory tract infectionsHP:0002788
  • ReticulocytopeniaHP:0001896
  • Short statureHP:0004322
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(19)

  • Abnormal thorax morphologyHP:0000765
  • BrachydactylyHP:0001156
  • Broad clavicleHP:0000916
  • CataractHP:0000518
  • Delayed eruption of teethHP:0000684
  • Dry skinHP:0000958
  • Eczematoid dermatitisHP:0000964
  • Gingival overgrowthHP:0000212
  • Hearing impairmentHP:0000365
  • Midface retrusionHP:0011800
  • Noncompaction cardiomyopathyHP:0012817
  • PanniculitisHP:0012490
  • Recurrent lower respiratory tract infectionsHP:0002783
  • Rhizomelic arm shorteningHP:0004991
  • Short humerusHP:0005792
  • Short metacarpalHP:0010049
  • Subcutaneous noduleHP:0001482
  • Tricuspid regurgitationHP:0005180
  • TrigonocephalyHP:0000243