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Achalasia-microcephaly syndrome

ORPHA:929 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(7)

  • Abnormal dermatoglyphicsHP:0007477
  • AchalasiaHP:0002571
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • Prominent noseHP:0000448

Occasional (29-5%)(3)

  • EpicanthusHP:0000286
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347