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Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326 · Malformation syndrome · Disorder

HPO 表現型(共 13 項)

Very frequent (99-80%)(13)

  • Camptodactyly of fingerHP:0100490
  • Cuboid-shaped vertebral bodiesHP:0004634
  • Hip dislocationHP:0002827
  • Intrauterine growth retardationHP:0001511
  • Labial hypoplasiaHP:0000066
  • MicrocephalyHP:0000252
  • Patellar hypoplasiaHP:0003065
  • Pectus excavatumHP:0000767
  • Short 2nd toeHP:0001885
  • Short 3rd toeHP:0005643
  • Short 5th toeHP:0011917
  • Short statureHP:0004322
  • Talipes equinovarusHP:0001762