NAA10-related syndrome

NAA10-related syndrome is a rare X-linked condition caused by a mutation in the NAA10 gene. People with this condition may experience a range of symptoms that can affect many parts of the body. The syndrome is known as an X-linked syndromic intellectual disability because many individuals have developmental challenges and intellectual disability. In addition, some people may have features of autism spectrum disorder and may also have low muscle tone (hypotonia). In this condition, there may also be differences in facial features, heart problems, or issues with the bones and skeletal system. Because the gene mutation affects how certain proteins are made, the symptoms can vary from one person to another. Research in this area is ongoing, and more details about the full spectrum of symptoms are continuing to be discovered.

Common signs in people with NAA10-related syndrome include developmental delays, intellectual disability, and features of autism spectrum disorder. Some individuals may have low muscle tone, unusual or distinctive facial features, heart anomalies, and skeletal differences. These symptoms can vary in severity from mild to more significant.

NAA10-related syndrome is caused by a mutation in the NAA10 gene. This genetic change is inherited in an X-linked pattern, which means that the gene is located on the X chromosome. Because of this pattern of inheritance, the condition is often more noticeable in individuals with one X chromosome.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.