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Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

ORPHA:2866 · Malformation syndrome · Disorder

HPO 表現型（共 8 項）

Frequent (79-30%)(7)

  • Abnormality of immune system physiologyHP:0010978
  • CraniosynostosisHP:0001363
  • Ectopic anusHP:0004397
  • GlaucomaHP:0000501
  • MutismHP:0002300
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322

Occasional (29-5%)(1)

  • NeoplasmHP:0002664