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Ring chromosome 6 syndrome
ORPHA:1448 · Malformation syndrome · Disorder
HPO 表現型(共 11 項)
Very frequent (99-80%)(11)
- EpicanthusHP:0000286
- HypertelorismHP:0000316
- Low posterior hairlineHP:0002162
- MacrotiaHP:0000400
- MicrocephalyHP:0000252
- Respiratory insufficiencyHP:0002093
- Short distal phalanx of fingerHP:0009882
- Short neckHP:0000470
- Short statureHP:0004322
- Urogenital fistulaHP:0100589
- Wide nasal bridgeHP:0000431