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Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(2)

  • Feeding difficulties in infancyHP:0008872
  • Postnatal growth retardationHP:0008897

Frequent (79-30%)(11)

  • ClinodactylyHP:0030084
  • Decreased body weightHP:0004325
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • OligohydramniosHP:0001562
  • Prominent foreheadHP:0011220
  • Reduced circulating growth hormone concentrationHP:0034323
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Triangular faceHP:0000325

Occasional (29-5%)(2)

  • Asymmetric growthHP:0100555
  • MicrognathiaHP:0000347