Mondo Description Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.

Uniprot Description A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum.

Disease Ontology Description A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF5C gene on chromosome 2q23.