| Metadata | |
|---|---|
| ID | DOID:0090132 |
| Name | complex cortical dysplasia with other brain malformations 7 |
| Definition | A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. https://ghr.nlm.nih.gov/condition/polymicrogyria, https://www.ncbi.nlm.nih.gov/pubmed/30016746, https://www.omim.org/entry/610031 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CDCBM7 [EXACT] polymicrogyria due to TUBB2B mutation [EXACT] |
| Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |