Baraitser-Winter Syndrome (BRWS)

Baraitser-Winter Syndrome, also known as iris coloboma with ptosis, hypertelorism, and mental retardation, is related to baraitser-winter cerebrofrontofacial syndrome and coloboma, ocular, autosomal dominant, and has symptoms including seizures An important gene associated with Baraitser-Winter Syndrome is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Gap junction trafficking. Affiliated tissues include brain and heart, and related phenotype is hearing/vestibular/ear.