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FRAXE intellectual disability

ORPHA:100973 · Disease · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(18)

  • Aggressive behaviorHP:0000718
  • AgitationHP:0000713
  • Autistic behaviorHP:0000729
  • ClumsinessHP:0002312
  • Compulsive behaviorsHP:0000722
  • Delayed speech and language developmentHP:0000750
  • EpicanthusHP:0000286
  • Hoarse voiceHP:0001609
  • HyperactivityHP:0000752
  • ImpulsivityHP:0100710
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Prominent ear helixHP:0009904
  • Prominent nasal bridgeHP:0000426
  • Recurrent hand flappingHP:0100023
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(3)

  • Clinodactyly of the 5th fingerHP:0004209
  • MacrocephalyHP:0000256
  • Stereotypical body rockingHP:0012172