Details of Disease

General Information of Disease (ID: DIS48K5N)

Disease Name Cortical dysplasia, complex, with other brain malformations 11
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DIS48K5N: Cortical dysplasia, complex, with other brain malformations 11
Disease Identifiers
MONDO ID
MONDO_0859332
UMLS CUI
C5774270
OMIM ID
620156
MedGen ID
1824043

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KIF26A OT3KFQ4R Strong Autosomal recessive [1]
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References

1 Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 Oct 24;57(20):2381-2396.e13. doi: 10.1016/j.devcel.2022.09.011. Epub 2022 Oct 12.