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Standards Ontologies Notations
complex cortical dysplasia with other brain malformations 5

Summary
Synonym
  • CDCBM5
Definition
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25.
Super Class
complex cortical dysplasia with other brain malformations
Disease Ontology
DOID:0090135
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7280 TUBB2A tubulin beta 2A class IIa
Displaying 1 entry
Gene ID Gene Symbol Description Source
22151 Tubb2a tubulin, beta 2A class IIA
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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: December 9, 2024