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Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

ORPHA:1538 · Malformation syndrome · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(9)

  • Cerebellar hypoplasiaHP:0001321
  • Dandy-Walker malformationHP:0001305
  • DolichocephalyHP:0000268
  • Frontal bossingHP:0002007
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • MicrognathiaHP:0000347
  • Optic atrophyHP:0000648
  • Orbital craniosynostosisHP:0005472

Frequent (79-30%)(2)

  • Intellectual disabilityHP:0001249
  • StrabismusHP:0000486