Mondo Description Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.

Uniprot Description A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum.

Disease Ontology Description A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF2A gene on chromosome 5q12.