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
Displaying entries 1 - 10 of 26 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024