It interacts with the transcription factor TBR1 and binds to several cell-surface proteins including neurexins and syndecans.

As a result, CASK is unable to form complexes with other proteins leading to a cascade of events.

Research has shown there is significant down-regulation of the genes involved in pre-synaptic development and of CASK protein interactors.

[10] Males affected by CASK variants tend to have more severe symptoms than females due to the X-linked nature of the disease.

Although there can be prenatal deceleration of head circumference growth, the majority of cases will not be diagnosed according to current recommendations for fetal CNS routine assessment.