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X-linked intellectual disability-psychosis-macroorchidism syndrome

ORPHA:3077 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(6)

  • Hyperactive deep tendon reflexesHP:0006801
  • HyperactivityHP:0000752
  • IrritabilityHP:0000737
  • MacroorchidismHP:0000053
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360

Frequent (79-30%)(11)

  • Aggressive behaviorHP:0000718
  • AnorexiaHP:0002039
  • Bipolar affective disorderHP:0007302
  • Congestive heart failureHP:0001635
  • Focal EEG discharges with secondary generalizationHP:0011188
  • Lower limb hyperreflexiaHP:0002395
  • Lower limb spasticityHP:0002061
  • Moderate intellectual disabilityHP:0002342
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • TremorHP:0001337

Occasional (29-5%)(9)

  • Abnormal fear-induced behaviorHP:0100852
  • Broad-based gaitHP:0002136
  • KyphoscoliosisHP:0002751
  • ObesityHP:0001513
  • ParkinsonismHP:0001300
  • Resting tremorHP:0002322
  • Shuffling gaitHP:0002362
  • Stooped postureHP:0025403
  • StrokeHP:0001297