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Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

ORPHA:988 · Malformation syndrome · Disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(4)

  • Abnormal fibula morphologyHP:0002991
  • Aplasia/Hypoplasia of the tibiaHP:0005772
  • Patellar aplasiaHP:0006443
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Synostosis of carpal bonesHP:0005048