STT3A-congenital disorder of glycosylation

STT3A-congenital disorder of glycosylation is a type of congenital disorders of N-linked glycosylation. It is characterized by a range of developmental challenges. People with this condition often experience developmental delay and intellectual disability, along with other challenges that can affect overall growth and development. In addition to developmental and intellectual challenges, people with this condition may have trouble gaining weight and exhibit low muscle tone (hypotonia). Seizures have also been reported. This condition is part of a broader group of disorders that affect a process in the body called glycosylation, which is important for the normal function of many proteins.

Common signs of STT3A-congenital disorder of glycosylation include developmental delay, intellectual disability, failure to thrive, hypotonia (low muscle tone), and seizures. These symptoms can vary in severity among people with the condition.

This condition is caused by mutations in the STT3A gene, which is located on chromosome 11q23.3. Changes in this gene affect a process known as N-linked glycosylation, which is important for the normal function of proteins in the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.