DISEASES

Disease-gene associations mined from literature

Human genes for Sweeney-Cox syndrome

Sweeney-Cox syndrome [DOID:0080538]

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.

Synonyms:  Sweeney-Cox syndrome,  DOID:0080538,  SweeneyCox syndrome,  Sweeney-Cox disease,  Sweeney-Cox disorder ...