This website provides information on patients with mutations in the WDFY3 gene, including clinical data, molecular data, management and research options.
Pathogenic variants in WDFY3 gene cause the WDFY3-related neurodevelopmental disorder. This is characterized by mild to moderate intellectual deficits, motor delay, behavioral disorders in the range of autism spectrum- and attention deficit hyperactivity-disorder, and abnormal head circumference. Not all individuals with a variant in the WDFY3 gene have these features.
This website is to share and collect information about clinic, management, and research projects, to gather more knowledge and provide better treatment of patients with disease causing variants in the WDFY3 gene.
Konstantinos Zarbalis, PhD, University of California at Davis, Shriners Hospitals for Children, Sacramento, CA, USA, firstname.lastname@example.org
Rami Abou Jamra, MD, Institute of Human Genetics, University Hospitals Leipzig, Leipzig, Germany, Rami.AbouJamra@medizin.uni-leipzig.de
Diana Le Duc, MD, PhD, Institute of Human Genetics, University Hospitals Leipzig, Leipzig, Germany, Gabriela-Diana.LeDuc@medizin.uni-leipzig.de