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Non-specific early-onset epileptic encephalopathy

ORPHA:442835 · Disease · Disorder

HPO 表現型（共 48 項）

Very frequent (99-80%)(1)

  • EncephalopathyHP:0001298

Frequent (79-30%)(10)

  • Abnormality of coordinationHP:0011443
  • Delayed speech and language developmentHP:0000750
  • Developmental regressionHP:0002376
  • EEG with multifocal slow activityHP:0010844
  • Failure to thriveHP:0001508
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • HyporeflexiaHP:0001265
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Occasional (29-5%)(31)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal myelinationHP:0012447
  • AtaxiaHP:0001251
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • AutismHP:0000717
  • Brain atrophyHP:0012444
  • Cerebral atrophyHP:0002059
  • Decreased fetal movementHP:0001558
  • Diminished deep tendon reflexHP:0001315
  • Downslanted palpebral fissuresHP:0000494
  • DyskinesiaHP:0100660
  • Feeding difficultiesHP:0011968
  • Gait disturbanceHP:0001288
  • Gastroesophageal refluxHP:0002020
  • High foreheadHP:0000348
  • HypodontiaHP:0000668
  • HypsarrhythmiaHP:0002521
  • ImpulsivityHP:0100710
  • Involuntary movementsHP:0004305
  • Mental deteriorationHP:0001268
  • MicrocephalyHP:0000252
  • MyoclonusHP:0001336
  • NystagmusHP:0000639
  • Poor head controlHP:0002421
  • PtosisHP:0000508
  • RigidityHP:0002063
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • TremorHP:0001337
  • Unsteady gaitHP:0002317

Very rare (<4-1%)(6)

  • Abnormal involuntary eye movementsHP:0012547
  • Abnormality of visionHP:0000504
  • Limb hypertoniaHP:0002509
  • Optic atrophyHP:0000648
  • Retinal degenerationHP:0000546
  • Status epilepticusHP:0002133