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Senior-Loken syndrome

ORPHA:3156 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(8)

  • Abnormal retinal pigmentationHP:0007703
  • Chronic kidney diseaseHP:0012622
  • Global developmental delayHP:0001263
  • HypertensionHP:0000822
  • Retinal dystrophyHP:0000556
  • Short statureHP:0004322
  • Stage 5 chronic kidney diseaseHP:0003774
  • Visual impairmentHP:0000505

Frequent (79-30%)(3)

  • NephronophthisisHP:0000090
  • Premature ovarian insufficiencyHP:0008209
  • Progressive visual lossHP:0000529

Occasional (29-5%)(5)

  • Abnormality of bone mineral densityHP:0004348
  • AtaxiaHP:0001251
  • CataractHP:0000518
  • Cone-shaped epiphysisHP:0010579
  • Congenital hepatic fibrosisHP:0002612