This website provides information on patients with mutations in the SETD2 gene, including clinical data, molecular data, management and research options.

The syndrome, SETD2-neurodevelopmental disorder (NDD), is caused by mutations in the SETD2 gene is a multisystem disorder characterized by developmental delays/ intellectual disability and/or behavioural difficulties. There have been two main types of the conditions described: SETD2-NDD with or without overgrowth/ macrocephaly, also called Luscan Lumish syndrome (LLS), and SETD2-NDD with multiple congenital anomalies, also called Rabin-Pappas syndrome (RAPAS). Additionally, there are other individuals who only have developmental delays/ intellectual disability with normal growth without multiple congenital anomalies.

Not all individuals with a mutation in the SETD2 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 SETD2 gene.

Rachel Rabin, MS, NYU Grossman School of Medicine, New York, United States, Rachel.rabin@nyulangone.org

John Pappas, MD, NYU Grossman School of Medicine, New York, United States, john.pappas@nyulangone.org