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Linear nevus sebaceus syndrome

ORPHA:2612 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(21)

  • Adenoma sebaceumHP:0009720
  • AlopeciaHP:0001596
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Asymmetric growthHP:0100555
  • Biparietal narrowingHP:0004422
  • Cavernous hemangiomaHP:0001048
  • Diminished deep tendon reflexHP:0001315
  • EEG abnormalityHP:0002353
  • Frontal bossingHP:0002007
  • Genu recurvatumHP:0002816
  • HyperreflexiaHP:0001347
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • Melanocytic nevusHP:0000995
  • MicrophthalmiaHP:0000568
  • Prominent occiputHP:0000269
  • SeizureHP:0001250
  • TelecanthusHP:0000506
  • VentriculomegalyHP:0002119
  • Vertebral segmentation defectHP:0003422

Frequent (79-30%)(6)

  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Facial asymmetryHP:0000324
  • Irregular hyperpigmentationHP:0007400
  • PlagiocephalyHP:0001357
  • Porencephalic cystHP:0002132

Occasional (29-5%)(4)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Cerebral calcificationHP:0002514
  • Dandy-Walker malformationHP:0001305
  • Growth delayHP:0001510