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complex cortical dysplasia with other brain malformations 1
Summary
- Synonym
-
- CDCBM1
- cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- 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.
- Super Class
- complex cortical dysplasia with other brain malformations
External Links
- Disease Ontology
- DOID:0090137
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1743 | DLST | dihydrolipoamide S-succinyltransferase | |
| 2218 | FKTN | fukutin | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 6383 | SDC2 | syndecan 2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
