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Bilateral perisylvian polymicrogyria

ORPHA:98889 · Clinical subtype · Subtype of disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(2)

  • Abnormality of neuronal migrationHP:0002269
  • Bilateral perisylvian polymicrogyriaHP:0032407

Frequent (79-30%)(17)

  • Delayed speech and language developmentHP:0000750
  • Distal arthrogryposisHP:0005684
  • EEG with central focal spikesHP:0012014
  • EEG with parietal focal spikesHP:0012017
  • EEG with polyspike wave complexesHP:0002392
  • Flexion contractureHP:0001371
  • Floppy infantHP:0008947
  • Focal-onset seizureHP:0007359
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • Intellectual disabilityHP:0001249
  • Language impairmentHP:0002463
  • Perisylvian predominant thick cortex pachygyriaHP:0020190
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Specific learning disabilityHP:0001328
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(30)

  • Abnormality of masticatory muscleHP:0410011
  • ApneaHP:0002104
  • AspirationHP:0002835
  • Cerebellar dysplasiaHP:0007033
  • Cerebellar vermis hypoplasiaHP:0001320
  • Choanal atresiaHP:0000453
  • DroolingHP:0002307
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • Ectopic posterior pituitaryHP:0011755
  • EEG with frontal focal spikesHP:0012015
  • Facial diplegiaHP:0001349
  • Feeding difficultiesHP:0011968
  • Focal sensory seizureHP:0011157
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • Infantile spasmsHP:0012469
  • Intrauterine growth retardationHP:0001511
  • Limb hypertoniaHP:0002509
  • Lower limb spasticityHP:0002061
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • NystagmusHP:0000639
  • Oromotor apraxiaHP:0007301
  • ParaparesisHP:0002385
  • Pectus excavatumHP:0000767
  • Protruding tongueHP:0010808
  • Pseudobulbar paralysisHP:0007024
  • Spastic tetraplegiaHP:0002510