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CDKL5-deficiency disorder

ORPHA:505652 · Disease · Disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(1)

  • Generalized tonic seizureHP:0010818

Frequent (79-30%)(36)

  • Abnormal muscle toneHP:0003808
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Broad foreheadHP:0000337
  • Broad proximal phalanges of the handHP:0009852
  • BruxismHP:0003763
  • Cerebral visual impairmentHP:0100704
  • ColdnessHP:0033850
  • ConstipationHP:0002019
  • Deep philtrumHP:0002002
  • Deeply set eyeHP:0000490
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Everted lower lip vermilionHP:0000232
  • Feeding difficultiesHP:0011968
  • Focal-onset seizureHP:0007359
  • Gait disturbanceHP:0001288
  • Gastroesophageal refluxHP:0002020
  • Gastrostomy tube feeding in infancyHP:0011471
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • HypsarrhythmiaHP:0002521
  • Impaired pain sensationHP:0007328
  • Infantile spasmsHP:0012469
  • Intellectual disabilityHP:0001249
  • Moderate global developmental delayHP:0011343
  • Multifocal epileptiform dischargesHP:0010841
  • Myoclonic seizureHP:0032794
  • Poor head controlHP:0002421
  • Prominent foreheadHP:0011220
  • Reduced eye contactHP:0000817
  • Severe global developmental delayHP:0011344
  • Sleep-wake cycle disturbanceHP:0006979
  • Stereotypical hand wringingHP:0012171
  • Tactile hypersensitivityHP:5200061
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(15)

  • ApneaHP:0002104
  • ChoreaHP:0002072
  • DystoniaHP:0001332
  • EsotropiaHP:0000565
  • ExotropiaHP:0000577
  • Hallux valgusHP:0001822
  • High foreheadHP:0000348
  • HyperventilationHP:0002883
  • KyphosisHP:0002808
  • MicrocephalyHP:0000252
  • Narrow foreheadHP:0000341
  • Paroxysmal bursts of laughterHP:0000749
  • Recurrent lower respiratory tract infectionsHP:0002783
  • ScoliosisHP:0002650
  • SynophrysHP:0000664