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Bilateral generalized polymicrogyria
ORPHA:208447 · Clinical subtype · Subtype of disorder
HPO 表現型（共 51 項）
Very frequent (99-80%)(3)
- Delayed ability to walkHP:0031936
- Delayed gross motor developmentHP:0002194
- Profound global developmental delayHP:0012736
Frequent (79-30%)(11)
- Abnormality of movementHP:0100022
- Atypical behaviorHP:0000708
- Axial hypotoniaHP:0008936
- Cerebral visual impairmentHP:0100704
- Feeding difficultiesHP:0011968
- Generalized-onset seizureHP:0002197
- Motor stereotypyHP:0000733
- MutismHP:0002300
- Severe intellectual disabilityHP:0010864
- Spastic tetraplegiaHP:0002510
- SpasticityHP:0001257
Occasional (29-5%)(36)
- Abnormal hippocampus morphologyHP:0025100
- Atonic seizureHP:0010819
- Autistic behaviorHP:0000729
- Bilateral tonic-clonic seizureHP:0002069
- Diffuse white matter abnormalitiesHP:0007204
- DyskinesiaHP:0100660
- DystoniaHP:0001332
- Eyelid myoclonusHP:0025097
- Focal emotional seizure with laughingHP:0010821
- Focal motor seizureHP:0011153
- Focal-onset seizureHP:0007359
- Gastroesophageal refluxHP:0002020
- Generalized myoclonic seizureHP:0002123
- Generalized tonic seizureHP:0010818
- Growth delayHP:0001510
- Hypoplasia of the corpus callosumHP:0002079
- Hypoplastic hippocampusHP:0025517
- Impaired masticationHP:0005216
- Infantile spasmsHP:0012469
- Lateral ventricle dilatationHP:0006956
- MicrocephalyHP:0000252
- Mild intellectual disabilityHP:0001256
- Moderate intellectual disabilityHP:0002342
- Nasogastric tube feedingHP:0040288
- Oculogyric crisisHP:0010553
- Oral-pharyngeal dysphagiaHP:0200136
- Paroxysmal dyskinesiaHP:0007166
- Profound intellectual disabilityHP:0002187
- Self-injurious behaviorHP:0100716
- Severe global developmental delayHP:0011344
- Short statureHP:0004322
- Sleep disturbanceHP:0002360
- Status epilepticusHP:0002133
- Total ophthalmoplegiaHP:0007824
- Typical absence seizureHP:0011147
- Widened subarachnoid spaceHP:0012704
Very rare (<4-1%)(1)
- Developmental regressionHP:0002376