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Article

The Great Escape: A Case Series on DDX3X Craniofacial Phenotypes in Females.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Aug 2026

Wang Ellen, Swiekatowski Kylie, Sobol Danielle, Greives Matthew, Hansen-Kiss Emily

Abstract excerpt

IntroductionDDX3X-related neurodevelopmental disorder (DDX3X-NDD) is a rare genetic condition that primarily affects females, leading to developmental delays and intellectual disability. DDX3X variants, primarily de novo, account for an estimated 1% to 3% of females with unknown causes of intellectual disability. Affected males have also been reported, often with the variant being inherited from an asymptomatic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41042938
DOI: 10.1177/10556656251383776
PMCID: PMC13334055

Genes

DDX3X

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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The Great Escape: A Case Series on DDX3X Craniofacial Phenotypes in Females.PMID 41042938Read ↗

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.Semantic proximity Read ↗

Phenotypic expansion in <i>DDX3X</i> – a common cause of intellectual disability in femalesSemantic proximity Read ↗

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