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Radioulnar synostosis-microcephaly-scoliosis syndrome
ORPHA:3268 · Malformation syndrome · Disorder
HPO 表現型（共 19 項）
Very frequent (99-80%)(19)
- Abnormal dermatoglyphicsHP:0007477
- Abnormal rib morphologyHP:0000772
- Abnormality of the dentitionHP:0000164
- Abnormality of the elbowHP:0009811
- Abnormality of the philtrumHP:0000288
- Clinodactyly of the 5th fingerHP:0004209
- Delayed skeletal maturationHP:0002750
- EpicanthusHP:0000286
- Finger syndactylyHP:0006101
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- MicrocephalyHP:0000252
- Pectus carinatumHP:0000768
- Premature birthHP:0001622
- Radioulnar synostosisHP:0002974
- ScoliosisHP:0002650
- Short statureHP:0004322
- SynophrysHP:0000664
- Thick eyebrowHP:0000574