This website provides information on patients with mutations in the STAG1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the STAG1 gene is a multisystem disorder characterized by developmental delay/intellectual disability, pronounced speech delay, early hypotonia, behavioural features including autism spectrum disorder, mild dysmorphism, and epilepsy in a subset of individuals. A broader phenotypic spectrum has been reported, including ocular or auditory involvement, musculoskeletal abnormalities, congenital heart or urogenital defects.

Not all individuals with a mutation in the STAG1 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 STAG1 gene.

Tinatin Tkemaladze, MD, PhD, Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia, t.tkemaladze@tsmu.edu

Kakha Bregvadze, MD, PhD, Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia, k.bregvadze@tsmu.edu