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MIRAGE
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
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3796 KIF2A kinesin family member 2A
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O00139 Kinesin-like protein KIF2A
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 7, 2025