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Lissencephaly type 1 due to doublecortin gene mutation

ORPHA:2148 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(4)

  • Atypical behaviorHP:0000708
  • Cognitive impairmentHP:0100543
  • Language impairmentHP:0002463
  • SeizureHP:0001250

Frequent (79-30%)(10)

  • Abnormal muscle toneHP:0003808
  • AgyriaHP:0031882
  • Akinetic mutismHP:0012672
  • Cerebral palsyHP:0100021
  • Flexion contractureHP:0001371
  • Focal-onset seizureHP:0007359
  • Generalized-onset seizureHP:0002197
  • Infantile spasmsHP:0012469
  • PachygyriaHP:0001302
  • Poor gross motor coordinationHP:0007015

Occasional (29-5%)(16)

  • Abnormal caudate nucleus morphologyHP:0002339
  • AgitationHP:0000713
  • AspirationHP:0002835
  • Autistic behaviorHP:0000729
  • Cerebral white matter atrophyHP:0012762
  • Delayed myelinationHP:0012448
  • Dilation of Virchow-Robin spacesHP:0012520
  • DysphagiaHP:0002015
  • Epileptic encephalopathyHP:0200134
  • Feeding difficulties in infancyHP:0008872
  • Hypoplasia of the corpus callosumHP:0002079
  • HypsarrhythmiaHP:0002521
  • IrritabilityHP:0000737
  • Lateral ventricle dilatationHP:0006956
  • ScoliosisHP:0002650
  • Secondary microcephalyHP:0005484