This website provides information on ASXL3, the genetic basis of Bainbridge-Ropers Syndrome (BRS), a syndromic form of autism spectrum disorders (ASD).
BRS is a multisystem disorder characterized by failure to thrive, global developmental delay, feeding problems and reduced gastrointestinal motility, hypotonia, features of autism, minimal or nonverbal, intellectual disability and altered sleep patterns. Not all individuals with an ASXL3 variant present with all these clinical features. There is also variability in severity of these features across individuals with BRS.
This website was created to share and collect information about clinic features and their manifestation across time, support research projects aimed at understanding BRS and as an informational resource for the BRS community.
Stephanie Bielas, PhD, Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI United States, firstname.lastname@example.org
Donna Martin, MD, PhD, Departments of Pediatrics and Human Genetics, University of Michigan Medical School, Ann Arbor, MI United States, email@example.com
Maria Irene Valenzuela Palafoll, MS, Clinical Geneticist, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain, firstname.lastname@example.org