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Mirror polydactyly-vertebral segmentation-limbs defects syndrome

ORPHA:3004 · Malformation syndrome · Disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(5)

  • Duodenal atresiaHP:0002247
  • PhocomeliaHP:0009829
  • Short statureHP:0004322
  • Split handHP:0001171
  • Vertebral segmentation defectHP:0003422

Frequent (79-30%)(2)

  • Aplasia of the thymusHP:0005359
  • Foot polydactylyHP:0001829