← 返回搜尋

Prader-Willi syndrome

ORPHA:739 · Disease · Disorder

HPO 表現型（共 90 項）

Very frequent (99-80%)(10)

  • Abnormal temper tantrumsHP:0025160
  • AnxietyHP:0000739
  • CryptorchidismHP:0000028
  • DysphagiaHP:0002015
  • Feeding difficulties in infancyHP:0008872
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • InfertilityHP:0000789
  • Motor delayHP:0001270
  • Short statureHP:0004322

Frequent (79-30%)(54)

  • Abdominal obesityHP:0012743
  • Abnormal facial shapeHP:0001999
  • Abnormal rapid eye movement sleepHP:0002494
  • Abnormality of the dentitionHP:0000164
  • Accelerated skeletal maturationHP:0005616
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Borderline intellectual disabilityHP:0006889
  • Brain imaging abnormalityHP:0410263
  • Central sleep apneaHP:0010536
  • Clitoral hypoplasiaHP:0000060
  • Decreased circulating gonadotropin concentrationHP:0030339
  • Decreased fetal movementHP:0001558
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • EdemaHP:0000969
  • Enamel hypoplasiaHP:0006297
  • ErysipelasHP:0001055
  • External genital hypoplasiaHP:0003241
  • Failure to thriveHP:0001508
  • GastroparesisHP:0002578
  • HypermetropiaHP:0000540
  • HypogonadismHP:0000135
  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Hypoplastic labia majoraHP:0000059
  • Hypoplastic labia minoraHP:0000064
  • HyporeflexiaHP:0001265
  • Impaired temperature sensationHP:0010829
  • Increased susceptibility to fracturesHP:0002659
  • Mild intellectual disabilityHP:0001256
  • MyopiaHP:0000545
  • Obstructive sleep apneaHP:0002870
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • PeriodontitisHP:0000704
  • Perisylvian polymicrogyriaHP:0012650
  • PolyphagiaHP:0002591
  • Poor suckHP:0002033
  • Primary amenorrheaHP:0000786
  • Recurrent respiratory infectionsHP:0002205
  • Reduced circulating growth hormone concentrationHP:0034323
  • ScoliosisHP:0002650
  • Short footHP:0001773
  • Small handHP:0200055
  • Small pituitary glandHP:0012506
  • Small scrotumHP:0000046
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486
  • VentriculomegalyHP:0002119
  • Weak cryHP:0001612

Occasional (29-5%)(24)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Adrenocorticotropic hormone deficiencyHP:0011748
  • Almond-shaped palpebral fissureHP:0007874
  • Autistic behaviorHP:0000729
  • Central hypothyroidismHP:0011787
  • Decreased circulating inhibin B concentrationHP:0031100
  • Downturned corners of mouthHP:0002714
  • Excessive daytime somnolenceHP:0001262
  • Gastroesophageal refluxHP:0002020
  • Hip dysplasiaHP:0001385
  • HypertensionHP:0000822
  • Moderate intellectual disabilityHP:0002342
  • Narrow nasal bridgeHP:0000446
  • Nasogastric tube feeding in infancyHP:0011470
  • Pituitary hypothyroidismHP:0008245
  • Premature adrenarcheHP:0012412
  • Premature pubarcheHP:0012411
  • PsychosisHP:0000709
  • SeizureHP:0001250
  • Skin-pickingHP:0012166
  • StrokeHP:0001297
  • Type II diabetes mellitusHP:0005978
  • VomitingHP:0002013
  • XerostomiaHP:0000217

Very rare (<4-1%)(2)

  • Central adrenal insufficiencyHP:0011734
  • Precocious pubertyHP:0000826