Details of Disease

General Information of Disease (ID: DIS9IWS1)

Disease Name Cortical dysplasia, complex, with other brain malformations 12
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DIS9IWS1: Cortical dysplasia, complex, with other brain malformations 12
Disease Identifiers
MONDO ID
MONDO_0957217
UMLS CUI
C5830407
OMIM ID
620316
MedGen ID
1841043

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
CAMSAP1 OT1N2182 Strong Autosomal recessive [1]
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References

1 The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.