This website provides information on patients with mutations in the TAF1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the TAF1 gene is a multisystem disorder characterized by hypotonia, developmental delay (DD), and facial dysmorphia, followed by later diagnoses of intellectual disability (ID), autism spectrum disorder (ASD), or both. A minority of individuals with a TAF1-related condition is born with differences in the structure of their heart. Not all individuals with a mutation in the TAF1 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 TAF1 gene.
Gholson Lyon, MD, PhD, New York Institute for Basic Research in Developmental Disabilities, Staten Island, New York, email@example.com