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Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(11)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal oral cavity morphologyHP:0000163
  • Anteverted naresHP:0000463
  • Depressed nasal ridgeHP:0000457
  • Generalized hyperpigmentationHP:0007440
  • Hypopigmentation of hairHP:0005599
  • Narrow mouthHP:0000160
  • Round faceHP:0000311
  • Short noseHP:0003196
  • Short statureHP:0004322

Frequent (79-30%)(1)

  • HypospadiasHP:0000047