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MIRAGE
complex cortical dysplasia with other brain malformations 7
Summary
- Synonym
-
- CDCBM7
- polymicrogyria due to TUBB2B mutation
- 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.
- Super Class
- complex cortical dysplasia with other brain malformations
External Links
- Disease Ontology
- DOID:0090132
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BVA1 | Tubulin beta-2B chain |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9CWF2 | Tubulin beta-2B chain |
