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Classic glucose transporter type 1 deficiency syndrome

ORPHA:71277 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(11)

  • Abnormal erythrocyte morphologyHP:0001877
  • AtaxiaHP:0001251
  • DystoniaHP:0001332
  • EEG abnormalityHP:0002353
  • EncephalopathyHP:0001298
  • Global developmental delayHP:0001263
  • HypoglycorrhachiaHP:0011972
  • Progressive microcephalyHP:0000253
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Status epilepticusHP:0002133

Frequent (79-30%)(17)

  • ChoreaHP:0002072
  • ChoreoathetosisHP:0001266
  • ConfusionHP:0001289
  • CyanosisHP:0000961
  • Delayed speech and language developmentHP:0000750
  • DysarthriaHP:0001260
  • DyskinesiaHP:0100660
  • Extrapyramidal dyskinesiaHP:0007308
  • Generalized hyperreflexiaHP:0007034
  • HeadacheHP:0002315
  • HemiparesisHP:0001269
  • HypertoniaHP:0001276
  • Intellectual disabilityHP:0001249
  • LethargyHP:0001254
  • Muscle stiffnessHP:0003552
  • ParalysisHP:0003470
  • Paroxysmal involuntary eye movementsHP:0007704

Occasional (29-5%)(5)

  • ApraxiaHP:0002186
  • Central apneaHP:0002871
  • MyoclonusHP:0001336
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486