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Keratoderma hereditarium mutilans

ORPHA:494 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(5)

  • Amniotic constriction ringHP:0009775
  • Autoamputation of digitsHP:0007460
  • Honeycomb palmoplantar hyperkeratosisHP:0007465
  • HyperkeratosisHP:0000962
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(2)

  • Cognitive impairmentHP:0100543
  • Hypogonadotropic hypogonadismHP:0000044

Occasional (29-5%)(10)

  • Abnormal nail morphologyHP:0001597
  • Abnormal spinal cord morphologyHP:0002143
  • Abnormal toenail morphologyHP:0008388
  • AlopeciaHP:0001596
  • Cleft palateHP:0000175
  • Hearing impairmentHP:0000365
  • IchthyosisHP:0008064
  • OsteolysisHP:0002797
  • PapuleHP:0200034
  • Self-injurious behaviorHP:0100716