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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
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 7280 | TUBB2A | tubulin beta 2A class IIa | |
| 10381 | TUBB3 | tubulin beta 3 class III | |
| 10382 | TUBB4A | tubulin beta 4A class IVa | |
| 10383 | TUBB4B | tubulin beta 4B class IVb | |
| 81027 | TUBB1 | tubulin beta 1 class VI | |
| 84617 | TUBB6 | tubulin beta 6 class V | |
| 203068 | TUBB | tubulin beta class I | |
| 347733 | TUBB2B | tubulin beta 2B class IIb |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 22151 | Tubb2a | tubulin, beta 2A class IIA | |
| 22152 | Tubb3 | tubulin, beta 3 class III | |
| 22153 | Tubb4a | tubulin, beta 4A class IVA | |
| 22154 | Tubb5 | tubulin, beta 5 class I | |
| 53857 | Tuba8 | tubulin, alpha 8 | |
| 67951 | Tubb6 | tubulin, beta 6 class V | |
| 73710 | Tubb2b | tubulin, beta 2B class IIB | |
| 227613 | Tubb4b | tubulin, beta 4B class IVB |
