Variants in the NAA10 gene are associated with developmental delay, intellectual disability, autism spectrum disorder, occasional congenital cardiac anomalies, and a variety of other conditions. The disease presentation is quite variable, and genotype-phenotype correlations are still being established. The clinical presentation of this X-linked condition in males can sometimes be quite severe, with neonatal or infantile death due to cardiac arrhythmias, although not always, as some males do not have cardiac manifestations.
NAA10