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Wolfram syndrome

ORPHA:3463 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(5)

  • Diabetes insipidusHP:0000873
  • Diabetes mellitusHP:0000819
  • Optic atrophyHP:0000648
  • PolydipsiaHP:0001959
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(10)

  • Abnormal mesentery morphologyHP:0100016
  • Abnormality of the urinary systemHP:0000079
  • AtaxiaHP:0001251
  • DysarthriaHP:0001260
  • DysuriaHP:0100518
  • Feeding difficulties in infancyHP:0008872
  • NephropathyHP:0000112
  • NystagmusHP:0000639
  • Recurrent urinary tract infectionsHP:0000010
  • SeizureHP:0001250

Occasional (29-5%)(24)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • AnemiaHP:0001903
  • Atypical behaviorHP:0000708
  • CardiomyopathyHP:0001638
  • Central apneaHP:0002871
  • Cerebral cortical atrophyHP:0002120
  • ConstipationHP:0002019
  • Delayed pubertyHP:0000823
  • DementiaHP:0000726
  • Developmental regressionHP:0002376
  • Gastric ulcerHP:0002592
  • Gastrointestinal hemorrhageHP:0002239
  • GlaucomaHP:0000501
  • HallucinationsHP:0000738
  • HypogonadismHP:0000135
  • Intellectual disabilityHP:0001249
  • Joint stiffnessHP:0001387
  • MalabsorptionHP:0002024
  • Male hypogonadismHP:0000026
  • MyopathyHP:0003198
  • OphthalmoplegiaHP:0000602
  • Peripheral neuropathyHP:0009830
  • Respiratory insufficiencyHP:0002093
  • Sleep disturbanceHP:0002360