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Autosomal recessive spastic paraplegia type 63

ORPHA:401805 · Disease · Disorder

HPO 表現型（共 9 項）

Frequent (79-30%)(8)

  • Decreased body weightHP:0004325
  • Delayed gross motor developmentHP:0002194
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • Scissor gaitHP:0012407
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • SpasticityHP:0001257

Occasional (29-5%)(1)

  • Abnormal periventricular white matter morphologyHP:0002518