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Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

ORPHA:1882 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(13)

  • AlopeciaHP:0001596
  • Atypical behaviorHP:0000708
  • Ciliary dyskinesiaHP:0012265
  • Delayed skeletal maturationHP:0002750
  • Dystrophic fingernailsHP:0008391
  • Dystrophic toenailHP:0001810
  • Fine hairHP:0002213
  • HypohidrosisHP:0000966
  • HypothyroidismHP:0000821
  • Recurrent respiratory infectionsHP:0002205
  • Short statureHP:0004322
  • Sparse eyebrowHP:0045075
  • Sparse scalp hairHP:0002209

Frequent (79-30%)(2)

  • Lacrimation abnormalityHP:0000632
  • Melanocytic nevusHP:0000995