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Kallmann syndrome

ORPHA:478 · Clinical subtype · Subtype of disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(11)

  • AnosmiaHP:0000458
  • Anterior hypopituitarismHP:0000830
  • Decreased fertilityHP:0000144
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • Erectile dysfunctionHP:0100639
  • Gonadotropin-releasing hormone deficiencyHP:0003164
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplasia of penisHP:0008736
  • HyposmiaHP:0004409
  • MicropenisHP:0000054

Frequent (79-30%)(4)

  • Abnormality of the voiceHP:0001608
  • Breast hypoplasiaHP:0003187
  • CryptorchidismHP:0000028
  • Reduced bone mineral densityHP:0004349

Occasional (29-5%)(29)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal morphology of female internal genitaliaHP:0000008
  • AtaxiaHP:0001251
  • Bimanual synkinesiaHP:0001335
  • Cleft palateHP:0000175
  • Color vision defectHP:0000551
  • Delayed skeletal maturationHP:0002750
  • DysarthriaHP:0001260
  • DyspareuniaHP:0030016
  • Gait disturbanceHP:0001288
  • GynecomastiaHP:0000771
  • HypotoniaHP:0001252
  • IchthyosisHP:0008064
  • Muscle weaknessHP:0001324
  • NystagmusHP:0000639
  • ObesityHP:0001513
  • ParaplegiaHP:0010550
  • Pes cavusHP:0001761
  • Pes planusHP:0001763
  • Primary amenorrheaHP:0000786
  • PtosisHP:0000508
  • Recurrent fracturesHP:0002757
  • Renal agenesisHP:0000104
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Skeletal dysplasiaHP:0002652
  • Tooth agenesisHP:0009804
  • TremorHP:0001337
  • Visual impairmentHP:0000505