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Short stature, Brussels type

ORPHA:2867 · Malformation syndrome · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(3)

  • Abnormal facial shapeHP:0001999
  • Growth delayHP:0001510
  • Short statureHP:0004322

Frequent (79-30%)(7)

  • Calcification of cartilageHP:0100593
  • Delayed epiphyseal ossificationHP:0002663
  • Horseshoe kidneyHP:0000085
  • MacrocephalyHP:0000256
  • MicroretrognathiaHP:0000308
  • Narrow chestHP:0000774
  • Triangular faceHP:0000325