| Metadata | |
|---|---|
| ID | DOID:0112227 |
| Name | tubulinopathy |
| Definition | A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. https://pubmed.ncbi.nlm.nih.gov/24860126/, https://pubmed.ncbi.nlm.nih.gov/31386652/, https://www.ncbi.nlm.nih.gov/books/NBK350554/ |
| Parent Relationships |