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OSLAM syndrome

ORPHA:2760 · Malformation syndrome · Disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(4)

  • Abnormality of neutrophilsHP:0001874
  • Carious teethHP:0000670
  • Increased mean corpuscular volumeHP:0005518
  • OsteosarcomaHP:0002669

Frequent (79-30%)(1)

  • Short statureHP:0004322

Occasional (29-5%)(2)

  • Clinodactyly of the 5th fingerHP:0004209
  • Radioulnar synostosisHP:0002974