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Sub-cortical nodular heterotopia

ORPHA:101029 · Clinical subtype · Subtype of disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(4)

  • Abnormal cerebral cortex morphologyHP:0002538
  • Abnormality of neuronal migrationHP:0002269
  • SeizureHP:0001250
  • Subcortical heterotopiaHP:0032391

Frequent (79-30%)(8)

  • Abnormal foramen magnum morphologyHP:0002699
  • EEG with focal slow activityHP:0010843
  • EEG with focal spikesHP:0011193
  • HyperreflexiaHP:0001347
  • Muscle weaknessHP:0001324
  • PolymicrogyriaHP:0002126
  • SpasticityHP:0001257
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(3)

  • Abnormal basal ganglia morphologyHP:0002134
  • Agenesis of corpus callosumHP:0001274
  • Hypoplasia of the corpus callosumHP:0002079