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
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
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 Models
Reference
MALACARDS
AD
Infant
<1/1000000
1
13
19
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Description
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No data available
Gene & Mutation
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MGI
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Comparison
Al agent
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