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
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
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q9Y487 V-type proton ATPase 116 kDa subunit a 2
Q9Y6A1 Protein O-mannosyl-transferase 1

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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