Individuals with pathogenic variants in the TUBB2A gene usually present in the first year of life with a decreased muscle tone (hypotonia), seizures or delay of developmental milestones. Some individuals achieve walking with or without support, but especially those individuals with severe brain malformations often remain wheelchair-bound. Intellectual disability can be mild to severe. Some patients have poor visual contact and small head.
On MRI imaging of the brain, the grey matter can be variably affected. While in some patients the brain surface shows normal folds and grooves, some patients have a flattened or irregular brain surface, which is referred to as dysgyria. Other structures of the brain can be malformed as well.