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Fibular aplasia-complex brachydactyly syndrome
ORPHA:2639 · Malformation syndrome · Disorder
HPO 表現型（共 15 項）
Very frequent (99-80%)(15)
- Abnormal epiphysis morphologyHP:0005930
- Abnormal hip bone morphologyHP:0003272
- Abnormal morphology of the radiusHP:0002818
- Abnormal morphology of ulnaHP:0040071
- Abnormal thumb morphologyHP:0001172
- Abnormal tibia morphologyHP:0002992
- Aplasia/Hypoplasia of the fibulaHP:0006492
- Bilateral single transverse palmar creasesHP:0007598
- BrachydactylyHP:0001156
- Limitation of joint mobilityHP:0001376
- MicromeliaHP:0002983
- Narrow nasal bridgeHP:0000446
- Short statureHP:0004322
- Synostosis of carpal bonesHP:0005048
- Tarsal synostosisHP:0008368