The CYFIP2-related neurodevelopmental disorder is a rare genetic disease following an autosomal-dominant inheritance pattern. Since its first description in 2018, less than 40 individuals with CYFIP2-related developmental disorder have been described to date. The main clinical features are developmental delay, epilepsy, and muscle tone anomalies. Further recurrent symptoms include behavioral problems, microcephaly, visual problems, feeding difficulties, unspecific brain MRI anomalies, and sleep disorder.
CYFIP2