This website provides information on patients with mutations in the GTPBP2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the GTPBP2 gene is a multisystem disorder characterized by microcephaly, generalized muscular atrophy, and hypotrichosis. Not all individuals with a mutation in the GTPBP2 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 GTPBP2 gene.

Elinaz Akbariazar, PhD, Urmia University of Medical Sciences, Urmia, Iran, Elinaz.akbari@yahoo.com

Isa Abdi Rad, MD, PhD, Urmia University of Medical Sciences, Urmia, Iran, isaabdirad@yahoo.com