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What is CYFIP2-related neurodevelopmental disorder?
CYFIP2-related neurodevelopmental disorder is a rare genetic disorder caused by certain changes in the CYFIP2 gene.
A genetic change in the CYFIP2 gene (also called a mutation or a pathogenic variant) has been linked to developmental delay/intellectual disability (ID). Other frequent symptoms were epilepsy, behavioral problems, low or high muscle tone, small head circumference, feeding difficulties, eye problems, changes in brain imaging, and sleep problems, but not all individuals with a change in the CYFIP2 gene have these features.

How many people are affected by CYFIP2-related neurodevelopmental disorder?
CYFIP2-related neurodevelopmental disorder is a rare disease. So far, less than 40 patients with a change in the CYFIP2 gene are known worldwide from the medical literature. However, it is likely that many more people are affected and not published in the medical literature or not yet diagnosed, since this disorder has been described for the first time in 2018, only. We are still learning more about this condition.