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Christianson syndrome

ORPHA:85278 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(13)

  • Absent speechHP:0001344
  • CachexiaHP:0004326
  • Developmental regressionHP:0002376
  • Generalized-onset seizureHP:0002197
  • Long faceHP:0000276
  • MacrotiaHP:0000400
  • Narrow faceHP:0000275
  • Neuronal loss in central nervous systemHP:0002529
  • Profound intellectual disabilityHP:0002187
  • Severe global developmental delayHP:0011344
  • StrabismusHP:0000486
  • Thick eyebrowHP:0000574
  • Truncal ataxiaHP:0002078

Frequent (79-30%)(29)

  • Abnormal thorax morphologyHP:0000765
  • Adducted thumbHP:0001181
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • AutismHP:0000717
  • Cerebellar atrophyHP:0001272
  • Cerebral cortical atrophyHP:0002120
  • Conspicuously happy dispositionHP:0100024
  • ConstipationHP:0002019
  • Delayed gross motor developmentHP:0002194
  • DroolingHP:0002307
  • DysphagiaHP:0002015
  • EEG abnormalityHP:0002353
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Feeding difficulties in infancyHP:0008872
  • Gait ataxiaHP:0002066
  • Gastroesophageal refluxHP:0002020
  • Hyperkinetic movementsHP:0002487
  • Inappropriate laughterHP:0000748
  • MicrocephalyHP:0000252
  • Motor stereotypyHP:0000733
  • MutismHP:0002300
  • NystagmusHP:0000639
  • Open mouthHP:0000194
  • OphthalmoplegiaHP:0000602
  • Pectus excavatumHP:0000767
  • Secondary microcephalyHP:0005484
  • SeizureHP:0001250
  • VentriculomegalyHP:0002119

Occasional (29-5%)(7)

  • Decreased muscle massHP:0003199
  • Deeply set eyeHP:0000490
  • Epileptic encephalopathyHP:0200134
  • Joint hypermobilityHP:0001382
  • OsteoporosisHP:0000939
  • ScoliosisHP:0002650
  • Sleep disturbanceHP:0002360