RARS2

This website provides information on patients with mutations in the RARS2gene, including clinical data, molecular data, management, and research options.

RARS2-associated developmental epileptic encephalopathies are characterized by a variable constellation of pontocerebellar hypoplasia, seizures, developmental delay, microcephaly, feeding difficulties, intellectual disability, hypotonia, ataxia, and spasticity.

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 RARS2gene.

William Presley, PhD, University of Chicago, Chicago, Illinois, United States, William.Presley@bsd.uchicago.edu
Daniela del Gaudio, PhD, FACMG, University of Chicago, Chicago, Illinois, United States, ddelgaudio@bsd.uchicago.edu