This website provides information on patients with mutations in the WDR45 gene, including clinical data, molecular data, management and research options. Individuals with mutations in WDR45 have beta-propeller protein-associated neurodegeneration, or “BPAN.”
The syndrome caused by mutations in the WDR45 gene is a multisystem disorder characterized by developmental delay / intellectual disability, absent to limited expressive language, early-onset seizures, and motor dysfunction. With age, seizures tend to resolve and progressive cognitive decline and movement disorders become more problematic.
Not all individuals with a mutation in the WDR45 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 WDR45 gene.
Allison Gregory, MS, Oregon Health & Science University, Portland, USA, email@example.com
Susan Hayflick, MD, Oregon Health & Science University, Portland, USA, firstname.lastname@example.org