This website provides information on patients with mutations in the ZBTB7A gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the ZBTB7A gene is a multisystem disorder characterized by various degree of developmental delay / intellectual disability, macrocephaly, overgrowth of adenoid tissue, and elevated foetal haemoglobin (HbF).

Not all individuals with a pathogenic variant in the ZBTB7A 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 ZBTB7A gene.

Charlotte von der Lippe, MD, PhD, Senior Consultant, Dept. of Medical Genetics, Telemark Hospital Trust, Skien, Norway, uxhelc@sthf.no

Kristian Tveten, PhD, CLG, Dept. of Medical Genetics, Telemark Hospital Trust, Skien, Norway, ktveten@sthf.no