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Sweeney-Cox syndrome
Summary
- Definition
- A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0080538
- Mondo Disease Ontology
- OMIM
