This website provides information on individuals with mutations in the DYRK1A gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the DYRK1A gene is a multisystem disorder characterized by specific facial features, small head circumference, expressive speech disorder, autism spectrum disorder, seizures, feeding problems, hypertonia and gait disturbances. Not all individuals with a mutation in the DYRK1A gene have these features.
Genetic variants (truncating mutations or deletions) in the gene DYRK1A lead to a well-recognizable syndromic form of intellectual disability.
Current available information on the medical consequences for individuals with DYRK1A mutations is limited. Therefore, we would like to study the clinical implications of this disorder.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with mutations in the DYRK1A gene.
Bregje van Bon, Clinical geneticist Radboud university medical centre, Department Human Genetics – division Clinical Genetics, Nijmegen The Netherlands firstname.lastname@example.org
Evan Eichler, Ph.D. (University of Washington, Seattle, USA), email@example.com