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X-linked complicated corpus callosum dysgenesis

ORPHA:1497 · Clinical subtype · Subtype of disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(2)

  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Frequent (79-30%)(4)

  • Cerebellar hypoplasiaHP:0001321
  • MicrocephalyHP:0000252
  • Muscle weaknessHP:0001324
  • SpasticityHP:0001257

Occasional (29-5%)(1)

  • Aganglionic megacolonHP:0002251