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Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

ORPHA:98754 · Etiological subtype · Subtype of disorder

HPO 表現型（共 67 項）

Very frequent (99-80%)(4)

  • CryptorchidismHP:0000028
  • Feeding difficulties in infancyHP:0008872
  • ObesityHP:0001513
  • VentriculomegalyHP:0002119

Frequent (79-30%)(34)

  • Abnormal temper tantrumsHP:0025160
  • Anterior pituitary hypoplasiaHP:0010627
  • Atypical behaviorHP:0000708
  • AutismHP:0000717
  • Autistic behaviorHP:0000729
  • Borderline intellectual disabilityHP:0006889
  • Central adrenal insufficiencyHP:0011734
  • Clitoral hypoplasiaHP:0000060
  • Decreased circulating gonadotropin concentrationHP:0030339
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • External genital hypoplasiaHP:0003241
  • Failure to thriveHP:0001508
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplastic labia minoraHP:0000064
  • HypotoniaHP:0001252
  • InfertilityHP:0000789
  • Mild intellectual disabilityHP:0001256
  • Occipital cortical atrophyHP:0012105
  • Parietal cortical atrophyHP:0012104
  • Perisylvian polymicrogyriaHP:0012650
  • PolyphagiaHP:0002591
  • Postterm pregnancyHP:0031169
  • Primary amenorrheaHP:0000786
  • PsychosisHP:0000709
  • Recurrent respiratory infectionsHP:0002205
  • ScoliosisHP:0002650
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055
  • Small scrotumHP:0000046
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486

Occasional (29-5%)(24)

  • Almond-shaped palpebral fissureHP:0007874
  • BulimiaHP:0100739
  • Central apneaHP:0002871
  • Central hypothyroidismHP:0011787
  • Decreased circulating inhibin B concentrationHP:0031100
  • Decreased circulating T4 concentrationHP:0031507
  • Decreased fetal movementHP:0001558
  • Diabetes mellitusHP:0000819
  • Downturned corners of mouthHP:0002714
  • GastroparesisHP:0002578
  • Global developmental delayHP:0001263
  • Hip dysplasiaHP:0001385
  • Impaired temperature sensationHP:0010829
  • Obstructive sleep apneaHP:0002870
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Pedal edemaHP:0010741
  • Premature adrenarcheHP:0012412
  • Premature pubarcheHP:0012411
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Skin-pickingHP:0012166
  • Sleep disturbanceHP:0002360
  • Small for gestational ageHP:0001518

Very rare (<4-1%)(5)

  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Iris hypopigmentationHP:0007730
  • Moderate intellectual disabilityHP:0002342
  • Precocious pubertyHP:0000826