Although no single feature is pathognomonic, several features should raise suspicion of an FLNA mutation, including female sex, with or without a positive family history that follows an X-linked dominant pattern; absence of overt intellectual disability, although learning difficulties, dyslexia and/or psychiatric problems can be present110,111; bilateral clusters of confluent nodules extending along the walls of the frontocentral lateral ventricles (classic PVNH)44; and the presence of a retrocerebellar cyst or mega cisterna magna44,110. This evidence concerns the gene FLNA and Intellectual disability.