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Cytochrome c oxidase is a respiratory chain enzyme that plays an important role in mitochondrial electron transport and reduces molecular oxygen to water leading to the formation of ATP. Defective production of cytochrome c oxidase leads to a variable phenotypic spectrum ranging from isolated myopathy to Leigh syndrome. Here, we describe two siblings, born to consanguineous parents, who presented with encephalopathy, developmental regression, hypotonia, pathognomonic brain imaging findings resembling Leigh\u2010syndrome, and a novel homozygous variant on\n                    <jats:italic>COX4I1<\/jats:italic>\n                    , expanding the known clinical phenotype associated with pathogenic variants in\n                    <jats:italic>COX4I1<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61288","type":"journal-article","created":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T06:27:17Z","timestamp":1562740037000},"page":"2138-2143","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Biallelic variants in\n                    <i>COX4I1<\/i>\n                    associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2943-2136","authenticated-orcid":false,"given":"Nishitha R.","family":"Pillai","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1384-2915","authenticated-orcid":false,"given":"Noura S.","family":"AlDhaheri","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"},{"name":"Department of Pediatrics College of Medicine and Health Sciences, United Arab Emirates University  Al Ain UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajarshi","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Department of Molecular 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