This website provides information on patients with mutations in the ASXL2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ASXL2 gene is a multisystem disorder characterized by macrocephaly, prominent eyes, glabellar nevus flammeus, hypertelorism, and developmental disabilities.

Not all individuals with a mutation in the ASXL2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ASXL2 gene.

Loren Pena, MD, PhD, Cincinnati Children’s Hospital and Medical Center; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, loren.pena@cchmc.org

Vandana Shashi, MD, Duke University School of Medicine, Durham, North Carolina, USA, vandana.shashi@duke.edu

Kelly Schoch, Genetic Counselor (MS), Duke University School of Medicine, Durham, North Carolina, USA, kelly.schoch@duke.edu