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Subaortic stenosis-short stature syndrome

ORPHA:3191 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(7)

  • Abnormal vocal cord morphologyHP:0008777
  • Abnormality of the voiceHP:0001608
  • Anteverted naresHP:0000463
  • ArrhythmiaHP:0011675
  • Membranous subvalvular aortic stenosisHP:0005174
  • Short statureHP:0004322
  • Subvalvular aortic stenosisHP:0001682

Frequent (79-30%)(5)

  • Inguinal herniaHP:0000023
  • KyphosisHP:0002808
  • ObesityHP:0001513
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650

Occasional (29-5%)(14)

  • Abnormal circulating lipid concentrationHP:0003119
  • AcneHP:0001061
  • Bilateral single transverse palmar creasesHP:0007598
  • Biliary tract abnormalityHP:0001080
  • EpicanthusHP:0000286
  • Intellectual disabilityHP:0001249
  • MicrodontiaHP:0000691
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • NystagmusHP:0000639
  • Posteriorly rotated earsHP:0000358
  • Short neckHP:0000470
  • Synostosis of carpal bonesHP:0005048
  • Type II diabetes mellitusHP:0005978