biostudies-literatureUnknown14(6)Rafat K<h4>Introduction</h4>We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant (c.976C>T; p.Arg326Cys) in <i>DDX3X</i>.<h4>Case presentation</h4>The girl was born with congenital diaphragmatic hernia a finding which had not previously been associated with variants in <i>DDX3X</i>. Her brain MRI showed hypogenesis of corpus callosum, ventriculomegaly, frontal and perisylvian polymicrogyria, and hypoplastic pons in addition to Dandy-Walker malformation.<h4>Conclusion</h4>Our results confirmed the phenotype and genotype correlation of missense variants and the polymicrogyria. Moreover, it further expands the knowledge of the phenotypic and molecular features of <i>DDX3X-</i>related intellectual disability.Molecular syndromology523-529https://www.ebi.ac.uk/biostudies/studies/S-EPMC10697763biostudies-literatureDandy-Walker Malformation in a Girl with <i>DDX3X-</i>Related Intellectual Disability.PMC10697763Rafat KAbdel-Salam GMHAbdel-Hamid MSfalseDandy-Walker Malformation in a Girl with <i>DDX3X-</i>Related Intellectual Disability.<h4>Introduction</h4>We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant (c.976C>T; p.Arg326Cys) in <i>DDX3X</i>.<h4>Case presentation</h4>The girl was born with congenital diaphragmatic hernia a finding which had not previously been associated with variants in <i>DDX3X</i>. Her brain MRI showed hypogenesis of corpus callosum, ventriculomegaly, frontal and perisylvian polymicrogyria, and hypoplastic pons in addition to Dandy-Walker malformation.<h4>Conclusion</h4>Our results confirmed the phenotype and genotype correlation of missense variants and the polymicrogyria. Moreover, it further expands the knowledge of the phenotypic and molecular features of <i>DDX3X-</i>related intellectual disability.2023-01-01T00:00:00Z2023 Dec2026-05-27T08:01:10.289Z2026-05-27T03:08:06.335ZS-EPMC106977633805875910.1159/000531715