This website provides information on patients with mutations in the PQBP1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PQBP1 gene is a multisystem disorder characterized by mental retardation, microcephaly, short stature, lean body, small testis, long narrow face, and various craniofacial anomaly.

Not all individuals with a mutation in the PQBP1 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 PQBP1 gene.

Hitoshi Okazawa, MD, PhD, Tokyo Medical and Dental University, Tokyo, Japan, okazawa.npat@mri.tmd.ac.jp