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ANK3-related intellectual disability-sleep disturbance syndrome

ORPHA:356996 · Disease · Disorder

HPO 表現型（共 13 項）

Frequent (79-30%)(9)

  • Aggressive behaviorHP:0000718
  • Autistic behaviorHP:0000729
  • BruxismHP:0003763
  • Delayed speech and language developmentHP:0000750
  • HyperactivityHP:0000752
  • HypotoniaHP:0001252
  • Moderate intellectual disabilityHP:0002342
  • Sleep disturbanceHP:0002360
  • SpasticityHP:0001257

Occasional (29-5%)(4)

  • Large for gestational ageHP:0001520
  • MacrocephalyHP:0000256
  • Mild intellectual disabilityHP:0001256
  • SeizureHP:0001250