{"id":3591,"date":"2025-11-19T18:00:00","date_gmt":"2025-11-19T18:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=3047adef4644dff95902009dfab2db64"},"modified":"2025-11-19T23:00:00","modified_gmt":"2025-11-19T23:00:00","slug":"genetic-variants-in-esrrg-are-associated-with-a-dominant-non-progressive-congenital-movement-disorder-with-ataxia","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/19\/genetic-variants-in-esrrg-are-associated-with-a-dominant-non-progressive-congenital-movement-disorder-with-ataxia\/","title":{"rendered":"Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia"},"content":{"rendered":"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.","protected":false},"excerpt":{"rendered":"<p>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 recurren&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-3591","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/3591","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=3591"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/3591\/revisions"}],"predecessor-version":[{"id":3738,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/3591\/revisions\/3738"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=3591"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=3591"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=3591"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}