This website provides information on patients with mutations in the TBC1 DOMAIN-CONTAINING KINASE (TBCK) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the TBCK gene is a multisystem disorder characterized by hypotonia, developmental delay and intellectual disability. Some individuals also have neurodegeneration, neuromuscular weakness, seizures and progressive coarse facial features including macroglossia (tongue overgrowth).
The severity of the neurologic symptoms varies in individuals affected with mutation in the TBCK 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 TBCK gene.
Elizabeth Bhoj, MD PhD, Children's Hospital of Philadelphia, PA, USA, firstname.lastname@example.org
Xilma Ortiz-Gonzalez, MD PhD, Children's Hospital of Philadelphia, PA, USA, email@example.com