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CK syndrome

ORPHA:251383 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(29)

  • Abnormal cerebral cortex morphologyHP:0002538
  • Almond-shaped palpebral fissureHP:0007874
  • AphasiaHP:0002381
  • AstheniaHP:0025406
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • EpicanthusHP:0000286
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • Intellectual disabilityHP:0001249
  • IrritabilityHP:0000737
  • KyphoscoliosisHP:0002751
  • Long faceHP:0000276
  • Long fingersHP:0100807
  • Long toeHP:0010511
  • Lumbar hyperlordosisHP:0002938
  • Malar flatteningHP:0000272
  • MicrocephalyHP:0000252
  • MicroretrognathiaHP:0000308
  • Narrow faceHP:0000275
  • PachygyriaHP:0001302
  • PolymicrogyriaHP:0002126
  • Posteriorly rotated earsHP:0000358
  • Prominent nasal bridgeHP:0000426
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • Slender buildHP:0001533
  • StrabismusHP:0000486
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(5)

  • Aggressive behaviorHP:0000718
  • Atypical behaviorHP:0000708
  • Generalized hypotoniaHP:0001290
  • HyperactivityHP:0000752
  • Joint hypermobilityHP:0001382

Excluded (0%)(1)

  • Abnormal circulating cholesterol concentrationHP:0003107