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Gnathodiaphyseal dysplasia

ORPHA:53697 · Malformation syndrome · Disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(3)

  • Bowing of the long bonesHP:0006487
  • Broad jawHP:0012802
  • Thickened cortex of long bonesHP:0000935

Frequent (79-30%)(2)

  • Mandibular osteomyelitisHP:0007626
  • OsteopeniaHP:0000938

Occasional (29-5%)(2)

  • Recurrent fracturesHP:0002757
  • ScoliosisHP:0002650