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Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(6)

  • Camptodactyly of fingerHP:0100490
  • Hidrotic ectodermal dysplasiaHP:0007529
  • Joint contracture of the 5th fingerHP:0009183
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Sparse hairHP:0008070

Frequent (79-30%)(8)

  • ArachnodactylyHP:0001166
  • Brittle hairHP:0002299
  • Carious teethHP:0000670
  • Coarse hairHP:0002208
  • Cognitive impairmentHP:0100543
  • HyperkeratosisHP:0000962
  • KyphosisHP:0002808
  • ScoliosisHP:0002650