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

Uniprot Description A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria.

Disease Ontology Description A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.