This website provides information on patients with mutations in the B9D2 gene (B9 DOMAIN-CONTAINING PROTEIN 2), including clinical data, molecular data, management and research options.

Bi-allelic variants in the B9D2 gene are associated with two allelic disorders: Meckel syndrome type 10 and Joubert syndrome type 34, both of which are severe ciliopathies.

Meckel syndrome is characterized by neural tube defects, posterior fossa abnormalities, polydactyly, and the presence of renal and hepatic cysts.

In contrast, Joubert syndrome is marked by the characteristic "molar tooth sign" on neuroimaging, seizures, polydactyly, cleft palate, and distinctive facial dysmorphism.

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 B9D2 gene.

Shalini S Nayak, PhD, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, nayak.shalini@manipal.edu

Katta M Girisha, MD, DM, PhD, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman, g.kumar@squ.edu.om