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Fragile X syndrome

ORPHA:908 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(7)

  • Abnormal speech patternHP:0002167
  • Chronic otitis mediaHP:0000389
  • Folate-dependent fragile site at Xq28HP:0003564
  • Joint hypermobilityHP:0001382
  • MacroorchidismHP:0000053
  • Moderate intellectual disabilityHP:0002342
  • Pes planusHP:0001763

Frequent (79-30%)(17)

  • Attention deficit hyperactivity disorderHP:0007018
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Frontal bossingHP:0002007
  • Gastroesophageal refluxHP:0002020
  • HypotoniaHP:0001252
  • Large foreheadHP:0002003
  • Long faceHP:0000276
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • Narrow faceHP:0000275
  • Otitis mediaHP:0000388
  • Protruding earHP:0000411
  • ScoliosisHP:0002650
  • SinusitisHP:0000246
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(9)

  • AnxietyHP:0000739
  • Ascending tubular aorta aneurysmHP:0004970
  • AutismHP:0000717
  • Cerebral cortical atrophyHP:0002120
  • IrritabilityHP:0000737
  • Mitral valve prolapseHP:0001634
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • StrabismusHP:0000486