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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

ORPHA:363523 · Disease · Disorder

HPO 表現型（共 16 項）

Frequent (79-30%)(12)

  • Broad nasal tipHP:0000455
  • Carious teethHP:0000670
  • Delayed early-childhood social milestone developmentHP:0012434
  • Delayed speech and language developmentHP:0000750
  • Enamel hypoplasiaHP:0006297
  • HypohidrosisHP:0000966
  • Intellectual disabilityHP:0001249
  • Palmoplantar hyperkeratosisHP:0000972
  • Recurrent feverHP:0001954
  • Recurrent respiratory infectionsHP:0002205
  • Sparse lateral eyebrowHP:0005338
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(3)

  • HepatitisHP:0012115
  • Mild microcephalyHP:0040196
  • Secondary microcephalyHP:0005484

Excluded (0%)(1)

  • Abnormal isoelectric focusing of serum transferrinHP:0003160