{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(6)"],"submitter":["Rafat K"],"pubmed_abstract":["<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."],"journal":["Molecular syndromology"],"pagination":["523-529"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10697763"],"repository":["biostudies-literature"],"pubmed_title":["Dandy-Walker Malformation in a Girl with <i>DDX3X-</i>Related Intellectual Disability."],"pmcid":["PMC10697763"],"pubmed_authors":["Rafat K","Abdel-Salam GMH","Abdel-Hamid MS"],"additional_accession":[]},"is_claimable":false,"name":"Dandy-Walker Malformation in a Girl with <i>DDX3X-</i>Related Intellectual Disability.","description":"<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.","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Dec","modification":"2026-05-27T08:01:10.289Z","creation":"2026-05-27T03:08:06.335Z"},"accession":"S-EPMC10697763","cross_references":{"pubmed":["38058759"],"doi":["10.1159/000531715"]}}