← 返回搜尋

Early infantile developmental and epileptic encephalopathy

ORPHA:1934 · Clinical syndrome · Disorder

HPO 表現型（共 63 項）

Obligate (100%)(1)

  • SeizureHP:0001250

Very frequent (99-80%)(5)

  • Epileptic encephalopathyHP:0200134
  • Focal motor seizureHP:0011153
  • Generalized myoclonic seizureHP:0002123
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(13)

  • DysphagiaHP:0002015
  • EEG abnormalityHP:0002353
  • EEG with burst suppressionHP:0010851
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Focal tonic seizureHP:0011167
  • HyperreflexiaHP:0001347
  • HypsarrhythmiaHP:0002521
  • LethargyHP:0001254
  • Poor head controlHP:0002421
  • Poor suckHP:0002033
  • Recurrent respiratory infectionsHP:0002205
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(26)

  • Atonic seizureHP:0010819
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebellar atrophyHP:0001272
  • ChoreoathetosisHP:0001266
  • Delayed myelinationHP:0012448
  • Developmental regressionHP:0002376
  • Diffuse cerebral atrophyHP:0002506
  • Diffuse white matter abnormalitiesHP:0007204
  • DyskinesiaHP:0100660
  • EEG with spike-wave complexesHP:0010850
  • Episodic ataxiaHP:0002131
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Focal-onset seizureHP:0007359
  • Generalized clonic seizureHP:0011169
  • Generalized non-motor (absence) seizureHP:0002121
  • Generalized tonic seizureHP:0010818
  • HyperactivityHP:0000752
  • Hypoplasia of the corpus callosumHP:0002079
  • Infantile spasmsHP:0012469
  • MyoclonusHP:0001336
  • PachygyriaHP:0001302
  • Self-injurious behaviorHP:0100716
  • SpasticityHP:0001257
  • TremorHP:0001337
  • Uni- and bilateral multifocal epileptiform dischargesHP:0011190

Very rare (<4-1%)(18)

  • Absent thumbnailHP:0012554
  • Anteverted naresHP:0000463
  • Broad fingerHP:0001500
  • Broad phalanx of the toesHP:0010174
  • Cleft palateHP:0000175
  • Depressed nasal bridgeHP:0005280
  • DystoniaHP:0001332
  • Failure to thriveHP:0001508
  • MicrocephalyHP:0000252
  • MicropenisHP:0000054
  • Precocious pubertyHP:0000826
  • Renal dysplasiaHP:0000110
  • Short fingerHP:0009381
  • Sloping foreheadHP:0000340
  • StrabismusHP:0000486
  • Umbilical herniaHP:0001537
  • UreteroceleHP:0000070
  • Ventricular septal defectHP:0001629