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Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

ORPHA:500180 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(8)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Atypical behaviorHP:0000708
  • Cerebral atrophyHP:0002059
  • Developmental regressionHP:0002376
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Hyperintensity of cerebral white matter on MRIHP:0030890

Frequent (79-30%)(12)

  • Absent speechHP:0001344
  • AphasiaHP:0002381
  • DystoniaHP:0001332
  • EEG abnormalityHP:0002353
  • Gait ataxiaHP:0002066
  • Global developmental delayHP:0001263
  • Inability to walkHP:0002540
  • MicrocephalyHP:0000252
  • Profound intellectual disabilityHP:0002187
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • SpasticityHP:0001257

Occasional (29-5%)(13)

  • Aggressive behaviorHP:0000718
  • Autistic behaviorHP:0000729
  • ChoreaHP:0002072
  • Floppy infantHP:0008947
  • Gastrostomy tube feeding in infancyHP:0011471
  • HyperactivityHP:0000752
  • Hypoplasia of the corpus callosumHP:0002079
  • Impaired pain sensationHP:0007328
  • ImpulsivityHP:0100710
  • KyphosisHP:0002808
  • Limb hypertoniaHP:0002509
  • Pectus carinatumHP:0000768
  • VentriculomegalyHP:0002119