Term Name: | Sweeney-Cox syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080538] ( DOID:0080538 ) |