This website provides information on patients with a recurrent pathogenic variant in the ZSWIM6 gene, including clinical and molecular data and options for management and research.

The syndrome caused by a recurrent c.2737C>T [p.Arg913Ter] variant in the ZSWIM6 gene is a multisystem disorder characterized by intellectual disability and additional central and peripheral nervous system symptoms.

Not all individuals with a mutation in the ZSWIM6 gene have these features. In particular, this is a separate condition to the congenital condition ZSWIM6-related Acromelic Frontonasal Dysostosis (AFND) which is a frontonasal and limb malformation condition caused by a separate mutation in the ZSWIM6 gene.

This website was created to share and collect information about clinical features, management and research projects relating to this condition and to gather more knowledge and provide better treatment of patients with ZSWIM6 mutations.

Dr. Elizabeth Emma Palmer, MD, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Sydney, Australia, Elizabeth.palmer1@health.nsw.gov.au

Dr. Raman Kumar, PhD, School of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia, raman.sharma@adelaide.edu.au

Professor Jozef Gecz, PhD, School of Medicine, The Robinson Research Institute, The University of Adelaide, North Adelaide, SA 5005, Australia, jozef.gecz@adelaide.edu.au

Dr. Michael Field, PhD, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia, Sydney, Australia, Mike.field@health.nsw.gov.au

Ms. Lucinda Murray, Genetic Counsellor, Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Sydney, Australia, lucinda.murray@health.nsw.gov.au