This website provides information on patients with mutations in the EXTL3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the EXTL3 gene is a multisystem disorder characterized as an immuno-skeletal dysplasia with neurodevelopmental abnormalities.

Reduced thymic output with T cell lymphopenia is marked by variable penetrance. Not all individuals with a mutation in the EXTL3 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 EXTL3 gene.

Taco Kuijpers, MD, PhD, Amsterdam UMC, Emma Children’s Hospital, Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam, The Netherlands, t.w.kuijpers@amsterdamumc.nl

Machteld Oud, PhD, Radboudumc, Human Genetics, Nijmegen, the Netherlands, machteld.oud@radboudumc.nl