tubulinopathy
http://purl.obolibrary.org/obo/MONDO_0100153
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. [ DOID:0112227 MONDO:patterns/disease_series_by_gene https://clinicalgenome.org/affiliation/40006/ ]
Term info
- DOID:0112227 (MONDO:equivalentTo)
https://github.com/monarch-initiative/mondo/issues/5506
http://orcid.org/0000-0001-5208-3432
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.
http://purl.obolibrary.org/obo/DOID_0112227
MONDO:0100153