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X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

ORPHA:3055 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(13)

  • Abnormality of the voiceHP:0001608
  • Aplasia/Hypoplasia of the testesHP:0010468
  • Atypical behaviorHP:0000708
  • CryptorchidismHP:0000028
  • Global developmental delayHP:0001263
  • Hypoplasia of penisHP:0008736
  • Intellectual disabilityHP:0001249
  • ObesityHP:0001513
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • TelecanthusHP:0000506

Frequent (79-30%)(1)

  • IchthyosisHP:0008064

Occasional (29-5%)(4)

  • Cutaneous photosensitivityHP:0000992
  • Eczematoid dermatitisHP:0000964
  • Hernia of the abdominal wallHP:0004299
  • NystagmusHP:0000639