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To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been established for SRD5A3\u2010CDG. Herein, we reported a novel<jats:italic>SRD5A3<\/jats:italic>missense pathogenic variant c.460\u2009T\u2009&gt;\u2009C p.(Ser154Pro). The 3D structural modeling of the SRD5A3 protein revealed additional transmembrane \u03b1\u2010helices and predicted that the p.(Ser154Pro) variant is located in a potential active site and is capable of reducing its catalytic efficiency. Based on phenotypes of our patients and all published SRD5A3\u2010CDG cases, we identified the most common clinical features as well as some recurrent dysmorphic features such as arched eyebrows, wide eyes, shallow nasal bridge, short nose, and large mouth. Based on facial digital 2D images, we successfully designed and validated a SRD5A3\u2010CDG computer based dysmorphic facial analysis, which achieved 92.5% accuracy. The current work integrates genotypic, 3D structural modeling and phenotypic characteristics of CDG\u2010SRD5A3 cases with the successful development of computer tool for accurate facial recognition of CDG\u2010SRD5A3 complex cases to assist in the diagnosis of this particular disorder globally.<\/jats:p>","DOI":"10.1002\/ajmg.a.62065","type":"journal-article","created":{"date-parts":[[2021,1,7]],"date-time":"2021-01-07T09:31:19Z","timestamp":1610011879000},"page":"1081-1090","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["<scp>SRD5A3\u2010CDG<\/scp>:<scp>3D<\/scp>structure modeling, clinical spectrum, and<scp>computer\u2010based<\/scp>dysmorphic facial recognition"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4836-8325","authenticated-orcid":false,"given":"Ikhlas","family":"Ben Ayed","sequence":"first","affiliation":[{"name":"Laboratory of Molecular and Cellular Screening 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