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Mosaic trisomy 7 syndrome

ORPHA:1747 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Frequent (79-30%)(4)

  • Depigmentation/hyperpigmentation of skinHP:0007483
  • Intrauterine growth retardationHP:0001511
  • Macular hypopigmentationHP:0007988
  • Postnatal growth retardationHP:0008897

Occasional (29-5%)(14)

  • Abnormal heart morphologyHP:0001627
  • Cleft palateHP:0000175
  • Enamel hypoplasiaHP:0006297
  • Facial asymmetryHP:0000324
  • Fetal cystic hygromaHP:0010878
  • HypertensionHP:0000822
  • HypertrichosisHP:0000998
  • Inguinal herniaHP:0000023
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Mild global developmental delayHP:0011342
  • Premature birthHP:0001622
  • Renal dysplasiaHP:0000110
  • Small for gestational ageHP:0001518