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Prader-Willi syndrome due to imprinting mutation

ORPHA:177910 · Etiological subtype · Subtype of disorder

HPO 表現型（共 18 項）

Frequent (79-30%)(11)

  • Abnormal facial shapeHP:0001999
  • Atypical behaviorHP:0000708
  • Decreased fetal movementHP:0001558
  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • Neonatal hypotoniaHP:0001319
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055

Occasional (29-5%)(2)

  • Abnormal ulnar metaphysis morphologyHP:0004039
  • Narrow palmHP:0004283

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

  • External genital hypoplasiaHP:0003241
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Iris hypopigmentationHP:0007730