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Woodhouse-Sakati syndrome

ORPHA:3464 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(29)

  • Abnormal spermatogenesisHP:0008669
  • Abnormal T-waveHP:0005135
  • AlopeciaHP:0001596
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Bilateral sensorineural hearing impairmentHP:0008619
  • ChoreoathetosisHP:0001266
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased serum estradiolHP:0008214
  • Decreased serum testosterone concentrationHP:0040171
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Growth delayHP:0001510
  • HyperinsulinemiaHP:0000842
  • HyperlipidemiaHP:0003077
  • HypogonadismHP:0000135
  • Hypoplasia of the fallopian tubeHP:0008697
  • Hypoplasia of the uterusHP:0000013
  • HypothyroidismHP:0000821
  • Insulin-resistant diabetes mellitusHP:0000831
  • Mental deteriorationHP:0001268
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • OsteopeniaHP:0000938
  • Premature ovarian insufficiencyHP:0008209
  • Protruding earHP:0000411
  • Streak ovaryHP:0010464

Occasional (29-5%)(6)

  • AnodontiaHP:0000674
  • HallucinationsHP:0000738
  • Prominent noseHP:0000448
  • PsychosisHP:0000709
  • Scaling skinHP:0040189
  • Triangular faceHP:0000325