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Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome

ORPHA:572013 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(7)

  • Abnormal hippocampus morphologyHP:0025100
  • Abnormality of the anterior commissureHP:0030301
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Axial hypotoniaHP:0008936
  • Neurodevelopmental delayHP:0012758
  • PachygyriaHP:0001302
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(4)

  • DysphagiaHP:0002015
  • Involuntary movementsHP:0004305
  • StrabismusHP:0000486
  • Thin corpus callosumHP:0033725

Occasional (29-5%)(9)

  • Cerebral visual impairmentHP:0100704
  • Facial asymmetryHP:0000324
  • Hip dislocationHP:0002827
  • Infantile spasmsHP:0012469
  • Motor stereotypyHP:0000733
  • Myoclonic seizureHP:0032794
  • Neurogenic bladderHP:0000011
  • Optic nerve hypoplasiaHP:0000609
  • SpasticityHP:0001257