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X-linked hypohidrotic ectodermal dysplasia

ORPHA:181 · Etiological subtype · Subtype of disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(9)

  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Delayed eruption of teethHP:0000684
  • Depressed nasal ridgeHP:0000457
  • Everted lower lip vermilionHP:0000232
  • Everted upper lip vermilionHP:0010803
  • HypohidrosisHP:0000966
  • MicrodontiaHP:0000691
  • Sparse body hairHP:0002231
  • Sparse hairHP:0008070

Frequent (79-30%)(1)

  • Frontal bossingHP:0002007

Occasional (29-5%)(4)

  • Anterior hypopituitarismHP:0000830
  • HypertensionHP:0000822
  • Short distal phalanx of fingerHP:0009882
  • Type I diabetes mellitusHP:0100651