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Syndromic recessive X-linked ichthyosis

ORPHA:281090 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(3)

  • HyperkeratosisHP:0000962
  • HypohidrosisHP:0000966
  • IchthyosisHP:0008064

Frequent (79-30%)(5)

  • AphasiaHP:0002381
  • Attention deficit hyperactivity disorderHP:0007018
  • Corneal opacityHP:0007957
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Occasional (29-5%)(13)

  • Abdominal wall defectHP:0010866
  • Abnormal abdominal wall morphologyHP:0004298
  • Abnormal stomach morphologyHP:0002577
  • Acute leukemiaHP:0002488
  • AutismHP:0000717
  • CryptorchidismHP:0000028
  • HypogonadismHP:0000135
  • LissencephalyHP:0001339
  • Renal insufficiencyHP:0000083
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Testicular seminomaHP:0100617
  • Unilateral renal agenesisHP:0000122