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Sagliker syndrome
ORPHA:300493 · Particular clinical situation in a disease or syndrome · Disorder
HPO 表現型(共 13 項)
Very frequent (99-80%)(4)
- Abnormal facial shapeHP:0001999
- Abnormality of the dentitionHP:0000164
- Elevated circulating parathyroid hormone levelHP:0003165
- Short statureHP:0004322
Frequent (79-30%)(4)
- Abnormality of the lower limbHP:0002814
- DepressionHP:0000716
- High-frequency hearing impairmentHP:0005101
- Waddling gaitHP:0002515
Occasional (29-5%)(5)
- Abnormal finger morphologyHP:0001167
- AnxietyHP:0000739
- ArthralgiaHP:0002829
- Frontal bossingHP:0002007
- Neoplasm of the oral cavityHP:0100649