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Heterozygous de novo pathogenic variants in <jats:italic>MAPK8IP3<\/jats:italic> result in a neurodevelopmental disorder with or without brain abnormalities and possible axonal peripheral neuropathy. Whole\u2010exome sequencing was performed on an individual presenting with severe congenital muscle hypotonia of neuronal origin mimicking lethal spinal muscular atrophy. Compound heterozygous rare variants (a splice and a missense) were detected in <jats:italic>MAPK8IP3,<\/jats:italic> inherited from the healthy parents. Western blot analysis in a muscle biopsy sample showed a more than 60% decrease in JIP3 expression. Here, we suggest a novel autosomal recessive phenotype of a lower motor neuron disease caused by JIP3 deficiency.<\/jats:p>","DOI":"10.1002\/ajmg.a.63340","type":"journal-article","created":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T09:44:30Z","timestamp":1689673470000},"page":"2428-2432","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Compound heterozygous variants in <scp><i>MAPK8IP3<\/i><\/scp> were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5936-3602","authenticated-orcid":false,"given":"Judit","family":"K\u00e1rteszi","sequence":"first","affiliation":[{"name":"Genetic Counselling Hospital of Zala County  Zalaegerszeg 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