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Spondylometaphyseal dysplasia, A4 type

ORPHA:168555 · Disease · Disorder

HPO 表現型（共 8 項）

Very frequent (99-80%)(5)

  • Coxa varaHP:0002812
  • MicromeliaHP:0002983
  • PlatyspondylyHP:0000926
  • Severe short statureHP:0003510
  • Spondylometaphyseal dysplasiaHP:0002657

Frequent (79-30%)(1)

  • Short palmHP:0004279

Occasional (29-5%)(2)

  • Flared, irregular rib endsHP:0006603
  • Limitation of joint mobilityHP:0001376