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Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(6)

  • Absent speechHP:0001344
  • AlacrimaHP:0000522
  • Delayed early-childhood social milestone developmentHP:0012434
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270

Frequent (79-30%)(3)

  • AchalasiaHP:0002571
  • AnisocoriaHP:0009916
  • StrabismusHP:0000486

Occasional (29-5%)(6)

  • Aggressive behaviorHP:0000718
  • Deep philtrumHP:0002002
  • DysphagiaHP:0002015
  • EnuresisHP:0000805
  • Preauricular skin tagHP:0000384
  • VentriculomegalyHP:0002119

Excluded (0%)(1)

  • Abnormality of the adrenal glandsHP:0000834