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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

ORPHA:231147 · Etiological subtype · Subtype of disorder

HPO 表現型（共 20 項）

Frequent (79-30%)(4)

  • Clinodactyly of the 5th fingerHP:0004209
  • Frontal bossingHP:0002007
  • Small for gestational ageHP:0001518
  • Triangular faceHP:0000325

Occasional (29-5%)(16)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the skeletal systemHP:0000924
  • Asymmetric growthHP:0100555
  • Cleft palateHP:0000175
  • Delayed gross motor developmentHP:0002194
  • External genital hypoplasiaHP:0003241
  • Facial asymmetryHP:0000324
  • Feeding difficulties in infancyHP:0008872
  • Gastrojejunal tube feeding in infancyHP:0030884
  • Global developmental delayHP:0001263
  • HyperhidrosisHP:0000975
  • HypoglycemiaHP:0001943
  • Intrauterine growth retardationHP:0001511
  • Lower limb asymmetryHP:0100559
  • Premature birthHP:0001622
  • Secondary microcephalyHP:0005484