Megalencephaly, Autosomal Dominant

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Megalencephaly, Autosomal Dominant is related to scn1a seizure disorders and developmental and epileptic encephalopathy 6b. An important gene associated with Megalencephaly, Autosomal Dominant is LOC102724058 (Uncharacterized LOC102724058), and among its related pathways/superpathways is Dravet syndrome. Affiliated tissues include brain, and related phenotypes are Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization and Increased shRNA abundance (Z-score > 2)

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
41
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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