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Pfeiffer-Palm-Teller syndrome

ORPHA:2871 · Malformation syndrome · Disorder

HPO 表現型（共 9 項）

Frequent (79-30%)(8)

  • Abnormal pinna morphologyHP:0000377
  • Abnormally high-pitched voiceHP:0001620
  • BlepharophimosisHP:0000581
  • Enamel hypoplasiaHP:0006297
  • EpicanthusHP:0000286
  • Intellectual disabilityHP:0001249
  • Joint stiffnessHP:0001387
  • Short statureHP:0004322

Excluded (0%)(1)

  • Aortic valve stenosisHP:0001650