This website provides information on patients with mutations in the WDR83OSgene, including clinical data, molecular data, management and research options.
The syndrome caused by biallelic mutations in the WDR83OSgene is a multisystem disorder characterized by neurodevelopmental including global developmental delay/intellectual disability, autistic behavior, dysmorphic features, gastrointestinal problems, growth failure, and liver dysfunction.
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 WDR83OSgene.
Davut Pehlivan, MD, Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States, pehlivan@bcm.edu
Jennifer E. Posey, MD, PhD, Departments of Pediatrics and Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, United States, jep2156@cumc.columbia.edu
WDR83OS