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Autosomal recessive Stickler syndrome

ORPHA:250984 · Clinical subtype · Subtype of disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(4)

  • Epiphyseal dysplasiaHP:0002656
  • Flat faceHP:0012368
  • High myopiaHP:0011003
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(11)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal vitreous humor morphologyHP:0004327
  • ArthralgiaHP:0002829
  • CataractHP:0000518
  • Irregular vertebral endplatesHP:0003301
  • Joint hypermobilityHP:0001382
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • MyopiaHP:0000545
  • VitreoretinopathyHP:0007773

Occasional (29-5%)(7)

  • Broad femoral neckHP:0006429
  • High palateHP:0000218
  • Lattice retinal degenerationHP:0007992
  • PlatyspondylyHP:0000926
  • Retinal detachmentHP:0000541
  • ScoliosisHP:0002650
  • Spondyloepiphyseal dysplasiaHP:0002655

Very rare (<4-1%)(1)

  • Cleft palateHP:0000175