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Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

ORPHA:289266 · Disease · Disorder

HPO 表現型（共 29 項）

Frequent (79-30%)(8)

  • Atypical behaviorHP:0000708
  • Bilateral tonic-clonic seizureHP:0002069
  • EEG with multifocal slow activityHP:0010844
  • Floppy infantHP:0008947
  • Poor head controlHP:0002421
  • Profound global developmental delayHP:0012736
  • Severe intellectual disabilityHP:0010864
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(21)

  • Abnormal facial shapeHP:0001999
  • Abnormal involuntary eye movementsHP:0012547
  • Abnormal myelinationHP:0012447
  • Axial hypotoniaHP:0008936
  • Diffuse cerebral atrophyHP:0002506
  • Epileptic spasmHP:0011097
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Focal-onset seizureHP:0007359
  • Generalized tonic seizureHP:0010818
  • HypertoniaHP:0001276
  • Hypoplasia of the corpus callosumHP:0002079
  • HyporeflexiaHP:0001265
  • Moderate intellectual disabilityHP:0002342
  • MyoclonusHP:0001336
  • Pes cavusHP:0001761
  • Primary microcephalyHP:0011451
  • Secondary microcephalyHP:0005484
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Stereotypical hand wringingHP:0012171