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Rhizomelic chondrodysplasia punctata

ORPHA:177 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(15)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormality of the dentitionHP:0000164
  • CataractHP:0000518
  • Dry skinHP:0000958
  • EpicanthusHP:0000286
  • Epiphyseal stipplingHP:0010655
  • Growth delayHP:0001510
  • IchthyosisHP:0008064
  • Limb undergrowthHP:0009826
  • MicrocephalyHP:0000252
  • RhizomeliaHP:0008905
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Sparse body hairHP:0002231

Frequent (79-30%)(3)

  • Flat faceHP:0012368
  • Limitation of joint mobilityHP:0001376
  • Spina bifida occultaHP:0003298

Occasional (29-5%)(2)

  • AlopeciaHP:0001596
  • Severe intellectual disabilityHP:0010864