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Pathogenic <jats:italic>TUBG1<\/jats:italic> variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations. We describe two missense variants in <jats:italic>TUBG1<\/jats:italic> and their associated clinical phenotypes. One individual has microcephaly, epilepsy, and a simplified gyral pattern with a <jats:italic>TUBG1<\/jats:italic> variant interpreted as pathogenic. The other individual has a likely pathogenic <jats:italic>TUBG1<\/jats:italic> variant that explains the milder presentation of autism spectrum disorder, intellectual disability, later\u2010onset well\u2010controlled epilepsy, a normocephalic head size, and no detectable structural abnormalities on neuroimaging.<\/jats:p>","DOI":"10.1002\/ajmg.a.64095","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T09:03:59Z","timestamp":1745917439000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Two New Cases Expand the Phenotypic Spectrum of <scp><i>TUBG1<\/i><\/scp> Missense Variants"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3617-7134","authenticated-orcid":false,"given":"Roser","family":"Urreizti","sequence":"first","affiliation":[{"name":"Clinical Biochemistry Department Hospital Sant Joan de D\u00e9u. 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