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Autosomal recessive spastic paraplegia type 23

ORPHA:101003 · Disease · Disorder

HPO 表現型（共 14 項）

Frequent (79-30%)(9)

  • Bowel incontinenceHP:0002607
  • Bowel urgencyHP:0012701
  • HyperreflexiaHP:0001347
  • KyphoscoliosisHP:0002751
  • Multiple lentiginesHP:0001003
  • Spastic gaitHP:0002064
  • Spastic paraplegiaHP:0001258
  • VitiligoHP:0001045
  • Waddling gaitHP:0002515

Occasional (29-5%)(5)

  • Hip dislocationHP:0002827
  • Horseshoe kidneyHP:0000085
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Silver-gray hairHP:0002218