SSR3-CDG is a rare congenital disorder of glycosylation caused by a deficiency in the SSR3 protein. Glycosylation is a process that helps cells function correctly, and when this process is disrupted, multiple body systems can be affected. In this condition, the brain, lungs, and gastrointestinal system show signs of abnormal development and function. People with SSR3-CDG may experience a range of challenges. The condition can affect the brain by causing seizures, intellectual disability, developmental delays, microcephaly (a smaller head size), and other structural abnormalities. Although research in this area is still limited, current understanding emphasizes the multi-system impact of this disorder.

Common symptoms in people with SSR3-CDG include seizures, intellectual disability, developmental delays, microcephaly, and abnormal brain structure. Some may also have issues affecting the lungs and gastrointestinal system.

SSR3-CDG is caused by a deficiency of the SSR3 protein, which is important for the glycosylation process in cells. This deficiency leads to improper cell function and development, particularly affecting the brain, lungs, and gastrointestinal system.