| Metadata | |
|---|---|
| ID | DOID:0090137 |
| Name | complex cortical dysplasia with other brain malformations 1 |
| Definition | A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. https://www.omim.org/entry/614039, https://www.ncbi.nlm.nih.gov/books/NBK350554/, https://www.ncbi.nlm.nih.gov/pubmed/30016746 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CDCBM1 [EXACT] cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a complex cortical dysplasia with other brain malformations |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |