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Autosomal recessive spastic paraplegia type 26

ORPHA:101006 · Disease · Disorder

HPO 表現型（共 22 項）

Frequent (79-30%)(10)

  • Babinski signHP:0003487
  • Cerebral cortical atrophyHP:0002120
  • Gait disturbanceHP:0001288
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HyperreflexiaHP:0001347
  • Intellectual disabilityHP:0001249
  • Lower limb spasticityHP:0002061
  • Muscle weaknessHP:0001324
  • Sensorimotor neuropathyHP:0007141
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(9)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormality of the urinary systemHP:0000079
  • CataractHP:0000518
  • DyskinesiaHP:0100660
  • DystoniaHP:0001332
  • Impaired vibration sensation at anklesHP:0006938
  • Pes cavusHP:0001761
  • Pseudobulbar paralysisHP:0007024
  • ScoliosisHP:0002650

Very rare (<4-1%)(3)

  • Decreased serum testosterone concentrationHP:0040171
  • HyporeflexiaHP:0001265
  • Premature ovarian insufficiencyHP:0008209