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Neurofibromatosis-Noonan syndrome

ORPHA:638 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(13)

  • Abdominal wall muscle weaknessHP:0009023
  • Abnormal helix morphologyHP:0011039
  • Abnormality of the faceHP:0000271
  • Downslanted palpebral fissuresHP:0000494
  • HypertelorismHP:0000316
  • Hypertrophic cardiomyopathyHP:0001639
  • Multiple cafe-au-lait spotsHP:0007565
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Pulmonic stenosisHP:0001642
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328
  • Webbed neckHP:0000465

Frequent (79-30%)(5)

  • Abnormal thorax morphologyHP:0000765
  • Abnormality of the lymphatic systemHP:0100763
  • CryptorchidismHP:0000028
  • DysphagiaHP:0002015
  • Prolonged bleeding timeHP:0003010