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Boomerang dysplasia
Summary
- Definition
- An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0050680
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
