Developmental and Epileptic Encephalopathy 88 (DEE88)

Alias:
Dee88
Developmental and Epileptic Encephalopathy, 88
Epileptic Encephalopathy, Early Infantile, 88
Eiee88
Early Infantile Epileptic Encephalopathy 88
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 88, also known as dee88, is related to retinitis pigmentosa. An important gene associated with Developmental and Epileptic Encephalopathy 88 is MDH1 (Malate Dehydrogenase 1). Affiliated tissues include pons and brain, and related phenotypes are seizure and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
21
1

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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