This website provides information on patients with mutations in the MYH10 gene, including clinical data, molecular data, management and research options.

The syndrome caused by dominant mutations in the MYH10 gene is a multisystem disorder characterized by a spectrum of neurodevelopmental disorders in addition to multiple congenital anomalies affecting many different organ systems.

Not all individuals with a mutation in the MYH10 gene have these features. We do observe remarkable variability in the expression of the MYH10-related disorder including individuals who are mildly affected, have isolated neurodevelopmental disorders, or have a syndromic presentation including multiple congenital anomalies.

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 MYH10 gene.

Alexander M. Holtz, MD, PhD, Boston Children’s Hospital, Boston, MA, USA, alexander.holtz@childrens.harvard.edu

Benjamin A Raby, MD, Boston Children’s Hospital, Boston, MA, USA, Benjamin.raby@childrens.harvard.edu

Caleb Bupp, MD, Helen DeVos Children’s Hospital, Grand Rapids, MI, caleb.bupp@corewellhealth.org