This website provides information on patients with mutations in the ZFHX4 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ZFHX4 gene is a multisystem disorder characterized by developmental delay, intellectual disability, abnormal muscle tone, behavioral abnormalities, distinctive facial features and morphological abnormalities of the central nervous system and digits. Not all individuals with a mutation in the ZFHX4 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 ZFHX4 gene.

María Palomares Bralo, PhD, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain, maria.palomares@salud.madrid.org

Bert Callewaert, MD, PhD, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Bert.Callewaert@UGent.be

Sixto García-Miñaúr, MD, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain, sixto.garciamin@gmail.com

Fernando Santos-Simarro, MD, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain, Fernando.santos@salud.madrid.org

Sarah Vergult, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, Sarah.Vergult@ugent.be