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Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144 · Etiological subtype · Subtype of disorder

HPO 表現型（共 19 項）

Frequent (79-30%)(9)

  • Clinodactyly of the 5th fingerHP:0004209
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Intrauterine growth retardationHP:0001511
  • OligohydramniosHP:0001562
  • Postnatal growth retardationHP:0008897
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Triangular faceHP:0000325

Occasional (29-5%)(10)

  • Decreased fetal movementHP:0001558
  • Facial asymmetryHP:0000324
  • Floppy infantHP:0008947
  • Midface retrusionHP:0011800
  • Motor delayHP:0001270
  • Prominent foreheadHP:0011220
  • Relative macrocephalyHP:0004482
  • Severe intrauterine growth retardationHP:0008846
  • Specific learning disabilityHP:0001328
  • Umbilical herniaHP:0001537