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

• OMIM:617746

Ontology

Human Disease   ( DOID:0080538 )