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Linear verrucous nevus syndrome

ORPHA:2611 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(6)

  • AstrocytomaHP:0009592
  • HyperkeratosisHP:0000962
  • MacrocephalyHP:0000256
  • Neoplasm of the central nervous systemHP:0100006
  • Sparse scalp hairHP:0002209
  • Verrucous papuleHP:0012500

Frequent (79-30%)(2)

  • Mental deteriorationHP:0001268
  • SeizureHP:0001250

Occasional (29-5%)(19)

  • Abnormal cornea morphologyHP:0000481
  • Abnormal skull morphologyHP:0000929
  • Abnormality of the kidneyHP:0000077
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Aplasia/Hypoplasia of the foveaHP:0008060
  • CataractHP:0000518
  • Dandy-Walker malformationHP:0001305
  • Genu recurvatumHP:0002816
  • HypophosphatemiaHP:0002148
  • Iris colobomaHP:0000612
  • Reduced bone mineral densityHP:0004349
  • RetinopathyHP:0000488
  • ScoliosisHP:0002650
  • Short metacarpalHP:0010049
  • Skeletal dysplasiaHP:0002652
  • StrabismusHP:0000486
  • TalipesHP:0001883
  • Toe syndactylyHP:0001770
  • VentriculomegalyHP:0002119