TUBB2A-related tubulinopathy is a rare condition caused by genetic changes in the TUBB2A gene that affect the brain's development. This condition is associated with abnormal brain structures, as people with this condition may show malformations of the corpus callosum, enlarged ventricles, dysgyria (abnormal brain folds), and abnormal basal ganglia. These brain changes stem from issues with microtubule function, which are important for building nerve cells. In addition to the brain malformations, individuals might also have cerebellar vermis hypoplasia or dysplasia (affecting the area that helps control balance) and decreased white matter, which is vital for brain connectivity. The effects can vary from person to person, and common features such as epilepsy, speech impairment, and motor impairment are often seen.

Common features of this condition include epilepsy, speech impairment, and motor impairment. Brain imaging may show malformations such as issues with the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. The way these symptoms appear can vary among people with this condition.

TUBB2A-related tubulinopathy is caused by heterozygous variants in the TUBB2A gene. These genetic changes lead to problems with how microtubules function, which in turn affects the development of the brain.