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Ectodermal dysplasia-blindness syndrome

ORPHA:1806 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(13)

  • Abnormal facial shapeHP:0001999
  • Abnormal speech patternHP:0002167
  • Abnormality of the dentitionHP:0000164
  • BlindnessHP:0000618
  • Corneal dystrophyHP:0001131
  • Intellectual disabilityHP:0001249
  • MicrocorneaHP:0000482
  • MicrophthalmiaHP:0000568
  • Narrow nasal bridgeHP:0000446
  • Protruding earHP:0000411
  • SclerocorneaHP:0000647
  • Short statureHP:0004322
  • Sparse hairHP:0008070

Occasional (29-5%)(12)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal skin pigmentationHP:0001000
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • CataractHP:0000518
  • Fine hairHP:0002213
  • Hearing impairmentHP:0000365
  • HyperkeratosisHP:0000962
  • HypohidrosisHP:0000966
  • Keratoconjunctivitis siccaHP:0001097
  • Recurrent respiratory infectionsHP:0002205
  • Skin ulcerHP:0200042