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Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(2)

  • Chorioretinal colobomaHP:0000567
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(4)

  • HematuriaHP:0000790
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • MicrophthalmiaHP:0000568

Occasional (29-5%)(10)

  • CataractHP:0000518
  • Corneal opacityHP:0007957
  • GlaucomaHP:0000501
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Posterior embryotoxonHP:0000627
  • PtosisHP:0000508
  • Retinal detachmentHP:0000541
  • StrabismusHP:0000486
  • Visual impairmentHP:0000505