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Article

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

Genes - 5 May 2026

Sadok Sara Hadj, Serra Alicia Irene, Pias-Peleteiro Leticia Diana, Chaparro Diana Salinas, Xiol Clara, Armstrong Judith, Guillén-Navarro Encarna, Martínez-Monseny Antonio F

Abstract excerpt

Background/Objectives: DDX3X syndrome (MIM#300958) is a neurodevelopmental disorder associated with intellectual disability, language impairment, and a characteristic neurobehavioral phenotype that predominantly affects females. Although dysmorphic features have been reported, a consistent facial phenotype and clear genotype-phenotype correlations have not been established. Methods: We conducted an observational,...

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Source

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Identifiers

PMID: 42195008
DOI: 10.3390/genes17050551
PMCID: PMC13205966

Genes

DDX3X

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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