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Autosomal recessive spastic paraplegia type 54

ORPHA:320380 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(3)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Spastic paraplegiaHP:0001258

Frequent (79-30%)(9)

  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Foot joint contractureHP:0008366
  • Gait disturbanceHP:0001288
  • Hypoplasia of the corpus callosumHP:0002079
  • Optic disc hypoplasiaHP:0007766
  • Periventricular white matter hyperintensitiesHP:0030891
  • Spastic gaitHP:0002064
  • StrabismusHP:0000486

Occasional (29-5%)(4)

  • High palateHP:0000218
  • Periventricular leukomalaciaHP:0006970
  • Short statureHP:0004322
  • Tip-toe gaitHP:0030051