Complex cortical dysplasia with other brain malformations (CDCBM) is a neuronal migration disorder associated with axon guidance defects. Clinically, patients have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Cortical malformations seen on brain MRI include: polymicrogyria, gyral disorganization, fusion of the basal ganglia, thin corpus callosum, hypoplastic brainstem, and abnormal cerebellar vermis. Abnormalities of the TUBB3 gene were reported in approximately 10% (12/120) of patients with CDCBM.
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