This website provides information on patients with mutations in the OTUD6B gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the OTUD6B gene (OTUD6B-associated syndrome) is a multisystem disorder characterized most commonly by intellectual disability, seizures, and dysmorphic features. OTUD6B-associated syndrome is caused by biallelic variants in the OTUD6B gene.

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 OTUD6B gene.

Lindsay Burrage, MD, PhD, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, burrage@bcm.edu

Amanda Gerard, MS, CGC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, agerard@bcm.edu