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Developmental and Epileptic Encephalopathy 73 (DEE73)

Alias:
Epileptic Encephalopathy, Early Infantile, 73
Dee73
Developmental and Epileptic Encephalopathy, 73
Eiee73
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Early Infantile Epileptic Encephalopathy 73
Rnf13-Related Severe Eoee
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 73, also known as epileptic encephalopathy, early infantile, 73, is related to developmental and epileptic encephalopathy 48. An important gene associated with Developmental and Epileptic Encephalopathy 73 is RNF13 (Ring Finger Protein 13). Affiliated tissues include eye and brain, and related phenotypes are seizure and spasticity
Related ID：
MALACARDS：DVL097
OMIM：618379
MESH：D013036

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
8
35
1
DVL097

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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