This website provides information on patients with mutations in the NAA15 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NAA15 gene is a multisystem disorder, including variable levels of developmental delay and intellectual disability. Additionally, some subjects present with mild craniofacial dysmorphology, congenital cardiac anomalies and seizures. Some of the males die in infancy due to cardiac arrhythmias. Not all individuals with a mutation in the NAA15 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NAA15 gene.
Gholson Lyon, MD, PhD, New York Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA, firstname.lastname@example.org