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MECP2-related severe neonatal encephalopathy

ORPHA:209370 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(4)

  • ApneaHP:0002104
  • EncephalopathyHP:0001298
  • Respiratory insufficiencyHP:0002093
  • Severe global developmental delayHP:0011344

Frequent (79-30%)(11)

  • Bilateral tonic-clonic seizureHP:0002069
  • EEG with focal slow activityHP:0010843
  • Gastroesophageal refluxHP:0002020
  • Gastrostomy tube feeding in infancyHP:0011471
  • Generalized neonatal hypotoniaHP:0008935
  • Growth delayHP:0001510
  • Involuntary movementsHP:0004305
  • MicrocephalyHP:0000252
  • Poor suckHP:0002033
  • SeizureHP:0001250
  • SpasticityHP:0001257

Occasional (29-5%)(4)

  • Cerebral atrophyHP:0002059
  • High palateHP:0000218
  • Multifocal epileptiform dischargesHP:0010841
  • PolymicrogyriaHP:0002126