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

The syndrome caused by mutations in the NKAP gene is a multisystem disorder characterized by developmental delay, learning disability, hypotonia, tall stature, other musculoskeletal features, and facial dysmorphisms. Not all individuals with a mutation in the NKAP gene have every feature.

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 NKAP gene.

Kosuke Izumi, MD, PhD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, USA, izumik1@email.chop.edu

Alyssa Ritter, MS, LCGC, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, USA, rittera@email.chop.edu