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5q35 microduplication syndrome

ORPHA:228415 · Malformation syndrome · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(5)

  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(3)

  • Atypical behaviorHP:0000708
  • Delayed skeletal maturationHP:0002750
  • MyopiaHP:0000545

Occasional (29-5%)(1)

  • SeizureHP:0001250