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multiple synostoses syndrome 3
Summary
- Definition
- A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12.
- Super Class
- multiple synostoses syndrome
External Links
- Disease Ontology
- DOID:0081319
- Mondo Disease Ontology
- OMIM
Related Genes
