This website provides information on patients with variants in the STT3A gene, including clinical data, molecular data, management and research options.
Pathogenic variants in the STT3A gene (STT3A-CDG) cause a multisystem glycosylation disorder characterized by variable presence of skeletal anomalies, short stature, macrocephaly/microcephaly, dysmorphic features, developmental delay and intellectual disability. Additional features include increased muscle tone and muscle cramps. Autosomal recessive STT3A-CDG has been reported, although most individuals reported appear to have dominant de novo or inherited mutations.
Not all individuals with a mutation in the STT3A gene have these features and the phenotype is variable.
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 STT3A gene.
Matthew Wilson, PhD, KU Leuven, Leuven, Belgium, firstname.lastname@example.org
Daisy Rymen, MD, PhD, UZ Leuven, Leuven, Belgium, email@example.com