UBR5

This website provides information on patients with mutations in the UBR5gene, including clinical data, molecular data, management and research options.

The syndrome caused by mostly de novo mutations in the UBR5gene is characterized by neurodevelopmental disorders, in most individuals, that include developmental delay, autism, intellectual disability and epilepsy. Movement disorders, genital and cardiac anomalies may also be observed, although they do not occur in all individuals with pathogenic mutations in UBR5gene.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment for patients with mutations in the UBR5gene.

Philippe M Campeau, MD, Department of Pediatrics, Université de Montréal, Montreal, Canada, p.campeau@umontreal.ca
Pascale Sabeh, Department of Pediatrics, Université de Montréal City, Montréal, Canada, pascale.sabeh.med@ssss.gouv.qc.ca