This website provides information on patients with mutations in the RHOBTB2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RHOBTB2 gene is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, seizures, movement disorders, postnatal microcephaly, hemiparesis, and acute encephalopathy.

Not all individuals with a mutation in the RHOBTB2 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 RHOBTB2 gene.

Hirotomo Saitsu, MD, PhD, Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, hsaitsu@hama-med.ac.jp

Mitsuhiro Kato, MD, PhD, Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, ktmthr@gmail.com