This website provides information on patients with mutations in the GNB1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the GNB1 gene is a multisystem disorder characterized by developmental delay/intellectual disability, seizure disorder, infantile hypotonia and abnormal vision. Other less common features include structural brain anomalies, dystonia, growth delay, cleft palate, genitourinary and gastrointestinal anomalies, and cutaneous mastocytosis.

Not all individuals with a mutation in the GNB1 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 GNB1 gene.

Kwame Anyane-Yeboa, MD, Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA, ka8@cumc.columbia.edu

Anya Revah-Politi, MS (Genetic Counselor), Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA, ar3594@cumc.columbia.edu

Sophie Colombo, PhD, Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA

Vimla Aggarwal, MBBS, Institute for Genomic Medicine and Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA

David Goldstein, PhD, Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA

Slave Petrovski, PhD, for Genomic Medicine, Columbia University Medical Center; and Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, New York, NY, USA and Melbourne, Australia