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Epilepsy-telangiectasia syndrome

ORPHA:1951 · Disease · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(9)

  • Anteverted naresHP:0000463
  • Conjunctival telangiectasiaHP:0000524
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • SeizureHP:0001250
  • Short 5th fingerHP:0009237
  • Short statureHP:0004322

Frequent (79-30%)(1)

  • Abnormality of the dentitionHP:0000164