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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