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In this study, we report two novel combinations identified by exome sequencing: p.(Arg135Trp) with p.(Arg65*) and p.(Arg102Trp) with p.(Arg65*). Both combinations share a common pathogenic nonsense variant, with the missense variants strategically located in the NAD\u2010binding domain of the UGDH protein, predicted in structural models to create new interactions with the central domain. The first patient exhibited the typical UGDH\u2010related disease phenotype and progressive microcephaly, a rarely reported feature. In contrast, the second patient presented an atypical phenotype, including absence of seizure, severe intellectual disability, ataxic gait, and abnormal eye movements. This comprehensive analysis extends the phenotypic spectrum of UGDH syndrome beyond early infantile intractable encephalopathy to include intellectual disability without epilepsy.<\/jats:p>","DOI":"10.1002\/ajmg.a.63820","type":"journal-article","created":{"date-parts":[[2024,7,13]],"date-time":"2024-07-13T00:28:16Z","timestamp":1720830496000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expanded phenotypic spectrum of <scp>UDP<\/scp>\u2010glucose\u20106\u2010dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy"],"prefix":"10.1002","volume":"194","author":[{"given":"Pauline","family":"Plante\u2010Bordeneuve","sequence":"first","affiliation":[{"name":"CHU Lille Institut de G\u00e9n\u00e9tique M\u00e9dicale  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Boussion","sequence":"additional","affiliation":[{"name":"Univ. 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