This website provides information on patients with mutations in the ALPK3 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ALPK3 gene (OMIM #618052) is a multisystem disorder characterized by early-onset cardiomyopathy, short stature, musculoskeletal features, cleft palate and facial dysmorphisms. Not all individuals with mutations in the ALPK3 gene have these features.
This website was created to share and collect information about clinical, management and research projects in order to gather more knowledge and provide better treatment for patients with pathogenic variants in the ALPK3 gene.
Johanna C. Herkert, MD, PhD, University Medical Center Groningen, Groningen, the Netherlands, firstname.lastname@example.org
Judith M. Verhagen, MD, PhD, Erasmus University Medical Center, Rotterdam, the Netherlands, email@example.com