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Chondroectodermal dysplasia with night blindness

ORPHA:319195 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(26)

  • Abnormal dental morphologyHP:0006482
  • Abnormal hair morphologyHP:0001595
  • Abnormal patella morphologyHP:0003045
  • Abnormality of the kneeHP:0002815
  • Congenital onychodystrophyHP:0008394
  • Delayed skeletal maturationHP:0002750
  • Early-onset non-progressive night blindnessHP:0007642
  • EpiphoraHP:0009926
  • Epiphyseal dysplasiaHP:0002656
  • Equinovarus deformityHP:0008110
  • Gait disturbanceHP:0001288
  • Hyperconvex fingernailsHP:0001812
  • Hyperconvex toenailHP:0030055
  • HyperhidrosisHP:0000975
  • Metaphyseal dysplasiaHP:0100255
  • Metaphyseal irregularityHP:0003025
  • MicrognathiaHP:0000347
  • Nail dystrophyHP:0008404
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Otitis mediaHP:0000388
  • PlatyspondylyHP:0000926
  • Recurrent long bone fracturesHP:0003084
  • Short statureHP:0004322
  • Talipes calcaneovarusHP:0008124
  • Wide humerusHP:0003886

Occasional (29-5%)(1)

  • OnychauxisHP:0012542