NAA15

Professionals

Variants in the NAA15 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. NAA15 is an autosomal gene, and it has been discovered to have heterozygous mutations in all individuals to date. The clinical presentation can be quite variable, but it is not nearly as severe at NAA10-related disorder, given that the latter condition is X-linked, with some males having very severe disease, including cardiac arrhythmias. To date, none of the individuals with NAA15 variants have died in infancy or childhood, to our knowledge.