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Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

ORPHA:488613 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(2)

  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263

Frequent (79-30%)(8)

  • EEG abnormalityHP:0002353
  • Expressive language delayHP:0002474
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Multifocal epileptiform dischargesHP:0010841
  • SeizureHP:0001250

Occasional (29-5%)(14)

  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebral visual impairmentHP:0100704
  • Cleft palateHP:0000175
  • Developmental regressionHP:0002376
  • EEG with generalized epileptiform dischargesHP:0011198
  • Floppy infantHP:0008947
  • Focal impaired awareness seizureHP:0002384
  • High palateHP:0000218
  • HydronephrosisHP:0000126
  • Impaired smooth pursuitHP:0007772
  • Inability to walkHP:0002540
  • Limb hypertoniaHP:0002509
  • NystagmusHP:0000639
  • StrabismusHP:0000486

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

  • Delayed myelinationHP:0012448
  • Overfolded helixHP:0000396
  • Pectus excavatumHP:0000767
  • PolymicrogyriaHP:0002126

Excluded (0%)(1)

  • MicrocephalyHP:0000252