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Stxbp1-Related Encephalopathy

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Stxbp1-Related Encephalopathy is related to developmental and epileptic encephalopathy and developmental and epileptic encephalopathy 4. An important gene associated with Stxbp1-Related Encephalopathy is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
Related ID：
MALACARDS：STX006

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
1-9/100000
1
13
--
STX006

Medical Symptom

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

Gene & Mutation

#
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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