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Autosomal recessive spastic paraplegia type 21

ORPHA:101001 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(2)

  • Abnormal pyramidal signHP:0007256
  • DementiaHP:0000726

Frequent (79-30%)(14)

  • Abnormality of peripheral nerve conductionHP:0003134
  • ApraxiaHP:0002186
  • DysgraphiaHP:0010526
  • DysphagiaHP:0002015
  • Frontotemporal cerebral atrophyHP:0006892
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Hypoplasia of the corpus callosumHP:0002079
  • Lower limb muscle weaknessHP:0007340
  • Mental deteriorationHP:0001268
  • Personality disorderHP:0012075
  • Primitive reflexHP:0002476
  • SpasticityHP:0001257

Occasional (29-5%)(2)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormality of extrapyramidal motor functionHP:0002071