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Haddad syndrome

ORPHA:99803 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(8)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Aganglionic megacolonHP:0002251
  • Breathing dysregulationHP:0005957
  • Central hypoventilationHP:0007110
  • Central sleep apneaHP:0010536
  • Failure to thriveHP:0001508
  • Small for gestational ageHP:0001518
  • StrabismusHP:0000486

Frequent (79-30%)(5)

  • Death in infancyHP:0001522
  • Gastroesophageal refluxHP:0002020
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Occasional (29-5%)(6)

  • Decreased fetal movementHP:0001558
  • GanglioneuromaHP:0003005
  • NeuroblastomaHP:0003006
  • OligohydramniosHP:0001562
  • PolyhydramniosHP:0001561
  • Sensorineural hearing impairmentHP:0000407