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Standards Ontologies Notations
complex cortical dysplasia with other brain malformations 3

Summary
Synonym
  • CDCBM3
Definition
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.
Super Class
complex cortical dysplasia with other brain malformations
Disease Ontology
DOID:0090134
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3796 KIF2A kinesin family member 2A
Displaying 1 entry
Gene ID Gene Symbol Description Source
16563 Kif2a kinesin family member 2A
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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