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Corpus callosum agenesis-neuronopathy syndrome

ORPHA:1496 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(7)

  • Agenesis of corpus callosumHP:0001274
  • EEG abnormalityHP:0002353
  • Global developmental delayHP:0001263
  • Hemiplegia/hemiparesisHP:0004374
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • SeizureHP:0001250

Frequent (79-30%)(1)

  • Aqueductal stenosisHP:0002410

Occasional (29-5%)(6)

  • Abnormal retinal pigmentationHP:0007703
  • CraniosynostosisHP:0001363
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • StrabismusHP:0000486
  • TurricephalyHP:0000262