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Human Disease

Sweeney-Cox syndrome

Term ID
DOID:0080538
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. https://www.ncbi.nlm.nih.gov/pubmed/28369379
References
Ontology
Human Disease   ( DOID:0080538 )
Relationships
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Genes Involved
Zebrafish Models