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Stickler syndrome type 2

ORPHA:90654 · Clinical subtype · Subtype of disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(6)

  • Abnormal vitreous humor morphologyHP:0004327
  • CataractHP:0000518
  • Corneal opacityHP:0007957
  • MyopiaHP:0000545
  • Retinal detachmentHP:0000541
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(3)

  • Cleft palateHP:0000175
  • RetinopathyHP:0000488
  • Tympanic membrane hypermobilityHP:6000015