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Epiphyseal stippling-osteoclastic hyperplasia syndrome
ORPHA:1952 · Malformation syndrome · Disorder
HPO 表現型（共 10 項）
Very frequent (99-80%)(10)
- Abnormal bone ossificationHP:0011849
- Abnormal calvaria morphologyHP:0002683
- Bowing of the long bonesHP:0006487
- Coarse metaphyseal trabecularizationHP:0100670
- Coronal cleft vertebraeHP:0003417
- Epiphyseal stipplingHP:0010655
- Genu varumHP:0002970
- HypotelorismHP:0000601
- Lethal skeletal dysplasiaHP:0005716
- Patent ductus arteriosusHP:0001643