Syngap1-Related Intellectual Disability (MRD5)

Alias:
Syngap1-Related Developmental and Epileptic Encephalopathy
Syngap1-Related Developmental Epileptic Encephalopathy
Mental Retardation, Autosomal Dominant 5
Syngap1-Related Dee
Mrd5
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Syngap1-Related Intellectual Disability, also known as syngap1-related developmental and epileptic encephalopathy, is related to intellectual developmental disorder, autosomal dominant 5 and cerebellar atrophy, developmental delay, and seizures, and has symptoms including seizures An important gene associated with Syngap1-Related Intellectual Disability is SYNGAP1 (Synaptic Ras GTPase Activating Protein 1). Affiliated tissues include tongue and eye, and related phenotypes are intellectual disability and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
1
14
19

Medical Symptom

#
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!
Wechat
Comparison
Al agent
Tutorials
Back to top