This website provides information on patients with bi-allelic mutations in the ERI1 gene with at least one missense variant, including clinical data, molecular data, management and research options.

The syndrome caused by bi-allelic mutations including at least one missense variant in the ERI1 gene is known as Spondyloepimetaphyseal dysplasia, Guo-Campeau type; SEMDGC (OMIM# 620663) and is a multisystem disorder mainly characterized by a bone growth disorder in the form of spondyloepimetaphyseal dysplasia. Additional findings could include cardiac anomalies, hydronephrosis, developmental delay, and hematologic anomalies.

Not all individuals with a mutation in the ERI1 gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ERI1 gene.

Philippe Campeau, MD, University of Montreal, Montreal, Canada, p.campeau@umontreal.ca

Maria Carla Borroto, MD, PhD, University of Montreal, Montreal, Canada, maria.carla.hermida.borroto@umontreal.ca