Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia

Heterozygous variants in ESRRG are associated with an autosomal-dominant, non-progressive congenital movement disorder. Clinical characterization of eight individuals, supported by in silico modeling and cell-based functional assays, defines a recurrent phenotype with congenital ataxia, hypotonia, and ocular motor abnormalities, expanding the genetic landscape of early-onset motor disorders.