Individuals with variants in NAA20 can present with developmental delays. This can be followed by later diagnoses of intellectual disability. Some individuals have issues with their heart, and some individual may develop seizures. There are also occasional neurologic issues, such as low tone (known as hypotonia) and ataxia. Most of individuals have minor facial anomalies and microcephaly. It is important to note that this is an extremely rare disorder, of which the clinical description remains very limited.
NAA20