Cortical Dysplasia, Complex, with Other Brain Malformations 14a (CDCBM14A)

Alias:
Bilateral Frontoparietal Polymicrogyria
Polymicrogyria, Bilateral Frontoparietal
Cerebellar Ataxia with Neuronal Migration Defect
Bfpp
Cdcbm14a
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Basic Information
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Gene & Mutation
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References Literature
Cortical Dysplasia, Complex, with Other Brain Malformations 14a, also known as bilateral frontoparietal polymicrogyria, is related to polymicrogyria and unilateral focal polymicrogyria, and has symptoms including seizures, abnormal pyramidal signs and ataxia, truncal. An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 14a is ADGRG1 (Adhesion G Protein-Coupled Receptor G1), and among its related pathways/superpathways are GPCRs, other and EGR2 and SOX10-mediated initiation of Schwann cell myelination. Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and seizure
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Basic Information

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Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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24
239
13

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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