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Autosomal recessive spastic paraplegia type 44

ORPHA:320401 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(10)

  • Abnormal auditory evoked potentialsHP:0006958
  • Abnormal motor evoked potentialsHP:0012896
  • Abnormality of somatosensory evoked potentialsHP:0007377
  • Abnormality of visual evoked potentialsHP:0000649
  • AtaxiaHP:0001251
  • CNS hypomyelinationHP:0003429
  • DysarthriaHP:0001260
  • Lower limb spasticityHP:0002061
  • Pes cavusHP:0001761
  • StrabismusHP:0000486

Frequent (79-30%)(5)

  • Gait disturbanceHP:0001288
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Somatic sensory dysfunctionHP:0003474
  • Urinary bladder sphincter dysfunctionHP:0002839

Occasional (29-5%)(1)

  • Delayed gross motor developmentHP:0002194