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Trismus-pseudocamptodactyly syndrome

ORPHA:3377 · Malformation syndrome · Disorder

HPO 表現型(共 7 項)

Very frequent (99-80%)(4)

  • Abnormality of the musculatureHP:0003011
  • Limitation of joint mobilityHP:0001376
  • Short statureHP:0004322
  • Symphalangism affecting the phalanges of the handHP:0009773

Occasional (29-5%)(3)

  • Hip dislocationHP:0002827
  • Mandibular prognathiaHP:0000303
  • PtosisHP:0000508