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Cernunnos-XLF deficiency

ORPHA:169079 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(10)

  • Bird-like faciesHP:0000320
  • Bulbous noseHP:0000414
  • Convex nasal ridgeHP:0000444
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased total B cell countHP:0010976
  • Decreased total lymphocyte countHP:0001888
  • Decreased total T cell countHP:0005403
  • Growth delayHP:0001510
  • MicrocephalyHP:0000252
  • Sloping foreheadHP:0000340

Frequent (79-30%)(2)

  • AnemiaHP:0001903
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(4)

  • AutoimmunityHP:0002960
  • ImmunodeficiencyHP:0002721
  • Recurrent bacterial infectionsHP:0002718
  • Recurrent viral infectionsHP:0004429