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X-linked intellectual disability, Golabi-Ito-Hall type

ORPHA:93947 · Clinical subtype · Subtype of disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(11)

  • Cupped earHP:0000378
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Long faceHP:0000276
  • MacroglossiaHP:0000158
  • MicrocephalyHP:0000252
  • Narrow faceHP:0000275
  • Protruding earHP:0000411
  • Short statureHP:0004322
  • Triangular faceHP:0000325
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(7)

  • Atrial septal defectHP:0001631
  • Brittle hairHP:0002299
  • Dry hairHP:0011359
  • EpicanthusHP:0000286
  • Nail dystrophyHP:0008404
  • Spastic diplegiaHP:0001264
  • SpasticityHP:0001257

Occasional (29-5%)(1)

  • SeizureHP:0001250