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

The syndrome caused by bi-allelic null mutations in the ERI1 gene is known as Hoxha-Aliu syndrome; HXAL (OMIM# 620662) and is a multisystem disorder mainly characterized by intellectual disability and digital anomalies. Additional findings could include cardiac anomalies, hydronephrosis, developmental delay, and hematologic anomalies.
Not all individuals with bi-allelic null a mutations 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