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Autosomal dominant Alport syndrome

ORPHA:88918 · Clinical subtype · Subtype of disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(1)

  • HematuriaHP:0000790

Frequent (79-30%)(3)

  • Chronic kidney diseaseHP:0012622
  • Multiple renal cystsHP:0005562
  • ProteinuriaHP:0000093

Occasional (29-5%)(3)

  • Macroscopic hematuriaHP:0012587
  • Sensorineural hearing impairmentHP:0000407
  • Stage 5 chronic kidney diseaseHP:0003774

Very rare (<4-1%)(2)

  • Corneal dystrophyHP:0001131
  • Recurrent corneal erosionsHP:0000495