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Kallmann syndrome-heart disease syndrome

ORPHA:2326 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Obligate (100%)(1)

  • Hypogonadotropic hypogonadismHP:0000044

Very frequent (99-80%)(2)

  • Intellectual disabilityHP:0001249
  • Total anosmiaHP:0010632

Frequent (79-30%)(21)

  • Anomalous origin of left coronary artery from the pulmonary arteryHP:0011638
  • Bilateral cryptorchidismHP:0008689
  • Cleft palateHP:0000175
  • CyanosisHP:0000961
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Dilated cardiomyopathyHP:0001644
  • Double outlet right ventricleHP:0001719
  • Growth delayHP:0001510
  • Heart murmurHP:0030148
  • MicropenisHP:0000054
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Partial anosmiaHP:0010633
  • Pulmonary artery hypoplasiaHP:0004971
  • Renal agenesisHP:0000104
  • Right aortic archHP:0012020
  • Sensorineural hearing impairmentHP:0000407
  • Short lingual frenulumHP:0000200
  • Short statureHP:0004322

Occasional (29-5%)(5)

  • Aortic regurgitationHP:0001659
  • Congestive heart failureHP:0001635
  • Midgut malrotationHP:0005211
  • Mitral regurgitationHP:0001653
  • Pulmonic regurgitationHP:0010444