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We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA\u2010CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome\u2013like phenotype. We found a high frequency of cardiac anomalies including structural anomalies and cardiomyopathy, and a high frequency of spontaneous death, especially in childhood. Comparative bioinformatical analysis of common variants, found in the healthy population, and pathogenic variants, identified in affected individuals, revealed a profound physiochemical dissimilarity of the substituted amino acids in variant constrained regions of the protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Our comprehensive analysis of the largest cohort of published and novel <jats:italic>PIGA<\/jats:italic> patients broadens the spectrum of PIGA\u2010CDG. Our genotype\u2010phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in <jats:italic>PIGA<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.16545","type":"journal-article","created":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T11:43:03Z","timestamp":1590493383000},"page":"1142-1155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Lessons learned from 40 novel <i>PIGA<\/i> patients and a review of the literature"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4986-8006","authenticated-orcid":false,"given":"Allan","family":"Bayat","sequence":"first","affiliation":[{"name":"Institute for Regional Health Services University of Southern Denmark Odense Denmark"},{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center 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