Mondo Description Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.

Uniprot Description A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients.

Disease Ontology Description A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBG1 gene on chromosome 17q21.