Metadata | |
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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.ncbi.nlm.nih.gov/books/NBK350554/, https://www.ncbi.nlm.nih.gov/pubmed/30016746, https://www.omim.org/entry/614039 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
CDCBM1 [EXACT] cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation [EXACT] |
Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |