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Ring chromosome 8 syndrome
ORPHA:1450 · Malformation syndrome · Disorder
HPO 表現型(共 14 項)
Very frequent (99-80%)(14)
- Abnormal palate morphologyHP:0000174
- Abnormality of the ureterHP:0000069
- Anteverted naresHP:0000463
- Deviation of fingerHP:0004097
- EpicanthusHP:0000286
- Frontal bossingHP:0002007
- High foreheadHP:0000348
- HydronephrosisHP:0000126
- Intellectual disabilityHP:0001249
- Low posterior hairlineHP:0002162
- PolyhydramniosHP:0001561
- Round earHP:0100830
- Short noseHP:0003196
- Sloping foreheadHP:0000340