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Short-limb skeletal dysplasia with severe combined immunodeficiency

ORPHA:935 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(5)

  • Abnormal metaphysis morphologyHP:0000944
  • Cellular immunodeficiencyHP:0005374
  • Decreased total lymphocyte countHP:0001888
  • Recurrent respiratory infectionsHP:0002205
  • Severe combined immunodeficiencyHP:0004430

Frequent (79-30%)(4)

  • AgammaglobulinemiaHP:0004432
  • Biparietal narrowingHP:0004422
  • Fine hairHP:0002213
  • Reduced bone mineral densityHP:0004349

Occasional (29-5%)(9)

  • Abnormality of the pancreasHP:0001732
  • Aganglionic megacolonHP:0002251
  • AnemiaHP:0001903
  • Cognitive impairmentHP:0100543
  • Inguinal herniaHP:0000023
  • Long fibulaHP:0003085
  • MalabsorptionHP:0002024
  • Pectus excavatumHP:0000767
  • White hairHP:0011364