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Stickler syndrome type 1

ORPHA:90653 · Clinical subtype · Subtype of disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(8)

  • Abnormal vitreous humor morphologyHP:0004327
  • CataractHP:0000518
  • Hypoplasia of the maxillaHP:0000327
  • Long philtrumHP:0000343
  • MyopiaHP:0000545
  • Retinal detachmentHP:0000541
  • Short noseHP:0003196
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(11)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal vertebral epiphysis morphologyHP:0100734
  • ArthralgiaHP:0002829
  • Cleft palateHP:0000175
  • Joint hypermobilityHP:0001382
  • Mitral valve prolapseHP:0001634
  • OsteoarthritisHP:0002758
  • PlatyspondylyHP:0000926
  • ProptosisHP:0000520
  • Sensorineural hearing impairmentHP:0000407
  • Tympanic membrane hypermobilityHP:6000015

Occasional (29-5%)(2)

  • Intellectual disabilityHP:0001249
  • Visual lossHP:0000572