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Mosaic trisomy 3 syndrome

ORPHA:100071 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(3)

  • Abnormal pinna morphologyHP:0000377
  • Prominent foreheadHP:0011220
  • Short statureHP:0004322

Occasional (29-5%)(19)

  • Abnormal heart morphologyHP:0001627
  • ArthralgiaHP:0002829
  • Cleft palateHP:0000175
  • ColobomaHP:0000589
  • Failure to thrive in infancyHP:0001531
  • GlaucomaHP:0000501
  • Hearing impairmentHP:0000365
  • Hip dislocationHP:0002827
  • Intellectual disabilityHP:0001249
  • Intractable diarrheaHP:0002041
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • Low-set earsHP:0000369
  • MalnutritionHP:0004395
  • MyopiaHP:0000545
  • ScoliosisHP:0002650
  • Short philtrumHP:0000322
  • Spina bifida occultaHP:0003298
  • SyndactylyHP:0001159

Very rare (<4-1%)(1)

  • Acute myeloid leukemiaHP:0004808