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Metadata
ID DOID:0080538
Name Sweeney-Cox syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/28369379
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OMIM:617746

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is_a syndrome

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