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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