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X-linked intellectual disability, Wilson type

ORPHA:85290 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Frequent (79-30%)(11)

  • Abnormal position of hair whorlHP:0010814
  • BrachycephalyHP:0000248
  • Growth delayHP:0001510
  • Mandibular prognathiaHP:0000303
  • MutismHP:0002300
  • Recurrent infectionsHP:0002719
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Square faceHP:0000321
  • Thick vermilion borderHP:0012471
  • Wide mouthHP:0000154

Occasional (29-5%)(5)

  • Delayed myelinationHP:0012448
  • Hydrocele testisHP:0000034
  • Inguinal herniaHP:0000023
  • Lateral ventricle dilatationHP:0006956
  • MicrocephalyHP:0000252