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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

ORPHA:2269 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(6)

  • Absent axillary hairHP:0002221
  • Absent pubic hairHP:0002555
  • Alopecia of scalpHP:0002293
  • Congenital alopecia totalisHP:0005597
  • Generalized ichthyosisHP:0007503
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(11)

  • Cutis laxaHP:0000973
  • Delayed ability to walkHP:0031936
  • Delayed gross motor developmentHP:0002194
  • Dry skinHP:0000958
  • EclabionHP:0012472
  • EctropionHP:0000656
  • Epidermal acanthosisHP:0025092
  • Generalized hyperkeratosisHP:0005595
  • Global developmental delayHP:0001263
  • Scaling skinHP:0040189
  • Unsteady gaitHP:0002317

Occasional (29-5%)(2)

  • Absent speechHP:0001344
  • Sparse eyebrowHP:0045075

Excluded (0%)(7)

  • Abnormal macular morphologyHP:0001103
  • HypogonadismHP:0000135
  • ParaplegiaHP:0010550
  • RigidityHP:0002063
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Tetraplegia/tetraparesisHP:0030182