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Epidermal nevus syndrome

ORPHA:35125 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(1)

  • NevusHP:0003764

Frequent (79-30%)(7)

  • Atrophy of the spinal cordHP:0006827
  • Hyperpigmentation of the skinHP:0000953
  • Hypopigmentation of the skinHP:0001010
  • PainHP:0012531
  • Progressive spastic paraparesisHP:0007199
  • Spinal canal stenosisHP:0003416
  • Spinal cord compressionHP:0002176

Occasional (29-5%)(12)

  • Abnormal brain morphologyHP:0012443
  • AreflexiaHP:0001284
  • AstigmatismHP:0000483
  • Babinski signHP:0003487
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • HypertoniaHP:0001276
  • LipomaHP:0012032
  • Spinal cord tumorHP:0010302
  • Thoracolumbar scoliosisHP:0002944
  • Visual impairmentHP:0000505
  • Weakness of long finger extensor musclesHP:0009077

Very rare (<4-1%)(6)

  • Abnormal facial shapeHP:0001999
  • Aortic aneurysmHP:0004942
  • Decreased circulating vitamin D concentrationHP:0100512
  • OsteopeniaHP:0000938
  • Polycystic kidney dysplasiaHP:0000113
  • RhabdomyosarcomaHP:0002859