cortical dysplasia complex with other brain malformations

cortical dysplasia complex with other brain malformations

A disorder (OMIM:614039) caused by aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia and spasticity.

Brain imaging
Variable malformations of the cerebral cortex, including polymicrogyria, gyral disorganisation, fusion of basal ganglia, thin corpus callosa, hypoplastic brainstem and dysplastic cerebellar vermis.

Molecular pathology
Defects of TUBB3 cause cortical dysplasia complex with other brain malformations.