Metadata | |
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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://www.ncbi.nlm.nih.gov/books/NBK350554/, https://pubmed.ncbi.nlm.nih.gov/24860126/, https://pubmed.ncbi.nlm.nih.gov/31386652/ |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal inheritance |