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Optic atrophy-intellectual disability syndrome

ORPHA:401777 · Disease · Disorder

HPO 表現型（共 39 項）

Frequent (79-30%)(9)

  • Abnormal facial shapeHP:0001999
  • Autistic behaviorHP:0000729
  • Global developmental delayHP:0001263
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Optic atrophyHP:0000648
  • Reduced visual acuityHP:0007663
  • SeizureHP:0001250

Occasional (29-5%)(21)

  • Abnormal helix morphologyHP:0011039
  • Absent speechHP:0001344
  • AmblyopiaHP:0000646
  • Anteverted naresHP:0000463
  • Attention deficit hyperactivity disorderHP:0007018
  • Cerebral visual impairmentHP:0100704
  • Compulsive behaviorsHP:0000722
  • EpicanthusHP:0000286
  • EsotropiaHP:0000565
  • ExotropiaHP:0000577
  • Hearing impairmentHP:0000365
  • Optic disc hypoplasiaHP:0007766
  • Optic nerve hypoplasiaHP:0000609
  • Prominent nasal bridgeHP:0000426
  • Protruding earHP:0000411
  • Repetitive compulsive behaviorHP:0008762
  • Short nasal bridgeHP:0003194
  • StrabismusHP:0000486
  • Tapered fingerHP:0001182
  • Upslanted palpebral fissureHP:0000582
  • Visual field defectHP:0001123

Very rare (<4-1%)(9)

  • Abnormal hippocampus morphologyHP:0025100
  • Delayed myelinationHP:0012448
  • Delayed skeletal maturationHP:0002750
  • HypermetropiaHP:0000540
  • KeratoconusHP:0000563
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Short statureHP:0004322
  • SpasticityHP:0001257