tubulinopathy
MONDO:0100153Mondo
Findings
No curated finding names tubulinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100153), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of