DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure

DDX23, a member of the DEAD-box RNA helicase superfamily, is crucial for RNA processing and translation initiation during gametogenesis and cell division. This study aims to determine the disease-causing potential and clinical relevance of rare de novo DDX23 missense variants identified in individuals with neurodevelopmental and cardiopulmonary anomalies.