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Autosomal recessive spastic paraplegia type 11

ORPHA:2822 · Disease · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(10)

  • Hypoplasia of the corpus callosumHP:0002079
  • Lower limb muscle weaknessHP:0007340
  • Mental deteriorationHP:0001268
  • Mild intellectual disabilityHP:0001256
  • Motor polyneuropathyHP:0007178
  • ParaparesisHP:0002385
  • Peripheral axonal neuropathyHP:0003477
  • Progressive spasticityHP:0002191
  • Sensorimotor neuropathyHP:0007141
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(19)

  • Abnormality of pattern visual evoked potentialsHP:0030455
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Cerebral cortical atrophyHP:0002120
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EMG: axonal abnormalityHP:0003482
  • EMG: neuropathic changesHP:0003445
  • Emotional labilityHP:0000712
  • Frontal cortical atrophyHP:0006913
  • Gait disturbanceHP:0001288
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • Inability to walkHP:0002540
  • Lateral ventricle dilatationHP:0006956
  • Memory impairmentHP:0002354
  • NystagmusHP:0000639
  • Saccadic smooth pursuit interruptionsHP:0001152
  • Short attention spanHP:0000736
  • Upper limb hyperreflexiaHP:0007350

Occasional (29-5%)(20)

  • Abnormal substantia nigra morphologyHP:0045007
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Atrophy of the spinal cordHP:0006827
  • DementiaHP:0000726
  • Distal amyotrophyHP:0003693
  • Focal T2 hyperintense basal ganglia lesionHP:0007183
  • Generalized limb muscle atrophyHP:0009055
  • Hypothalamic atrophyHP:0025058
  • LymphedemaHP:0001004
  • ObesityHP:0001513
  • Orthostatic hypotensionHP:0001278
  • OverweightHP:0025502
  • ParkinsonismHP:0001300
  • Pes cavusHP:0001761
  • PsychosisHP:0000709
  • Retinal degenerationHP:0000546
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Visual impairmentHP:0000505