complex cortical dysplasia with other brain malformations

Summary
Synonym
  • CDCBM
Definition
A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.
Super Class
autosomal dominant disease brain disease
Disease Ontology
DOID:0090131
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
10297 APC2 APC regulator of WNT signaling pathway 2
27086 FOXP1 forkhead box P1
157922 CAMSAP1 calmodulin regulated spectrin associated protein 1
348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
12386 Ctnna2 catenin alpha 2
15165 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
108655 Foxp1 forkhead box P1
227634 Camsap1 calmodulin regulated spectrin-associated protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84390 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1

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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