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Bilateral polymicrogyria

ORPHA:268940 · Morphological anomaly · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(1)

  • SeizureHP:0001250

Frequent (79-30%)(21)

  • Abnormal pyramidal signHP:0007256
  • Aplasia/Hypoplasia of the brainstemHP:0007362
  • Aplasia/Hypoplasia of the cerebral white matterHP:0012429
  • Cerebellar ataxia associated with quadrupedal gaitHP:0009878
  • Cerebellar atrophyHP:0001272
  • Cognitive impairmentHP:0100543
  • Delayed speech and language developmentHP:0000750
  • DyslexiaHP:0010522
  • EsotropiaHP:0000565
  • Focal-onset seizureHP:0007359
  • Functional motor deficitHP:0004302
  • Global developmental delayHP:0001263
  • Language impairmentHP:0002463
  • Mental deteriorationHP:0001268
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • Motor delayHP:0001270
  • Pseudobulbar signsHP:0002200
  • Spastic hemiparesisHP:0011099
  • Spastic tetraparesisHP:0001285
  • VentriculomegalyHP:0002119

Occasional (29-5%)(22)

  • 4-layered lissencephalyHP:0006818
  • Abnormal glossopharyngeal nerve morphologyHP:3000047
  • Abnormality of masticatory muscleHP:0410011
  • Arthrogryposis multiplex congenitaHP:0002804
  • Bilateral tonic-clonic seizureHP:0002069
  • Central hypothyroidismHP:0011787
  • DroolingHP:0002307
  • DysarthriaHP:0001260
  • Facial diplegiaHP:0001349
  • Feeding difficultiesHP:0011968
  • Generalized myoclonic seizureHP:0002123
  • Generalized-onset seizureHP:0002197
  • Infantile spasmsHP:0012469
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Perisylvian polymicrogyriaHP:0012650
  • Pseudobulbar paralysisHP:0007024
  • Sensorineural hearing impairmentHP:0000407
  • Talipes equinovarusHP:0001762
  • Tongue muscle weaknessHP:0000183
  • Wide mouthHP:0000154