Mondo Description Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.

Uniprot Description A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved.

Disease Ontology Description A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.3.