Giavanna Verdi

1 Introduction Genomic testing has become an integral component of the diagnostic evaluation for individuals presenting with multiple congenital anomalies. Exome sequencing (ES) is particularly beneficial when the clinical phenotype is nonspecific or evolves over time, providing diagnostic clarity when targeted testing is nondiagnostic.

1 Introduction DDX3X-related neurodevelopmental disorder (DDX3X-NDD) is a genetic condition characterized by developmental delays, mild to severe intellectual disability, hypotonia, and language impairment. As of 2023, approximately 200 individuals are described in the medical literature as being affected with DDX3X-NDD; however, there are several more individuals known to have DDX3X-NDD who have not been published in the literature.