NAA15 encodes the auxiliary subunit of the N-terminal acetyltransferase A (NatA) complex, which pairs with the catalytic subunit NAA10 to perform N-terminal acetylation of cytosolic proteins 1. This post-translational modification affects approximately 80% of cytosolic proteins and is essential for normal cellular function 2. The NatA complex plays a critical role in neurodevelopment, as disruption leads to significant developmental abnormalities. Loss-of-function variants in NAA15 cause haploinsufficiency and are associated with a neurodevelopmental syndrome characterized by variable intellectual disability, autism spectrum disorder, delayed speech and motor milestones, mild craniofacial dysmorphology, congenital cardiac anomalies, and seizures 12. RNA analysis demonstrates that truncating variants lead to transcript degradation through nonsense-mediated decay 1. Functional studies in mouse models show that NAA15 deficiency increases neuronal count and impairs axon and synapse formation, leading to aberrant brain development and behavioral abnormalities 3. The syndrome also presents with distinctive ophthalmic manifestations including cortical visual impairment and various refractive errors 4. Neuroimaging reveals multiple anatomical brain abnormalities, with affected individuals showing structure-function correlations between brain defects and developmental outcomes 5.