A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene. [ MONDO:patterns/disease_series_by_gene DOID:0112227 https://clinicalgenome.org/affiliation/40006/ ]
Term information
- DOID:0112227 (MONDO:equivalentTo)
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