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This is the second report of biallelic mutations in <jats:italic>MAPKAPK5<\/jats:italic> whose impairment during human development has been associated with neurological, cardiac, and facial anomalies combined with fingers and toes malformations. Through the affected patients' genetic and phenotypic features overlap, this report confirms <jats:italic>MAPKAPK5<\/jats:italic> as causative gene and adds unique neurodevelopmental characterization. Moreover, based on the complex congenital genitourinary anomalies reported and <jats:italic>MAPKAPK5<\/jats:italic> literature review, we also propose kidney and external genitalia involvement as a key syndromic feature whose expressivity may be more severe in males.<\/jats:p>","DOI":"10.1111\/cge.14150","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T10:43:51Z","timestamp":1652697831000},"page":"142-148","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the novel <scp><i>MAPKAPK5<\/i><\/scp>\u2013related developmental disorder's genotype\u2013phenotype correlation: Patient report and 19\u00a0months of follow\u2010up"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2907-3206","authenticated-orcid":false,"given":"Davide","family":"Vecchio","sequence":"first","affiliation":[{"name":"Rare Diseases and Medical Genetics Unit, Academic 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