← 返回搜尋

Autosomal recessive spastic paraplegia type 9B

ORPHA:447760 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(4)

  • Babinski signHP:0003487
  • Lower limb hyperreflexiaHP:0002395
  • SpasticityHP:0001257
  • Upper limb hyperreflexiaHP:0007350

Frequent (79-30%)(8)

  • DysarthriaHP:0001260
  • Growth delayHP:0001510
  • Impaired continenceHP:0031064
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Postural tremorHP:0002174
  • Spastic gaitHP:0002064
  • TetraplegiaHP:0002445

Occasional (29-5%)(17)

  • Abnormal facial shapeHP:0001999
  • Abnormal periventricular white matter morphologyHP:0002518
  • Absent Achilles reflexHP:0003438
  • Cerebral cortical atrophyHP:0002120
  • Corpus callosum atrophyHP:0007371
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Impaired vibration sensation at anklesHP:0006938
  • KyphoscoliosisHP:0002751
  • Loss of speechHP:0002371
  • MicrocephalyHP:0000252
  • PollakisuriaHP:0100515
  • Primitive reflexHP:0002476
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • Tip-toe gaitHP:0030051
  • Urinary retentionHP:0000016