Syngap1-Related Intellectual Disability (MRD5)

Syngap1-Related Intellectual Disability(来自ICD-11)
别称:
Syngap1-Related Developmental and Epileptic Encephalopathy
Syngap1-Related Developmental Epileptic Encephalopathy
Mental Retardation, Autosomal Dominant 5
Syngap1-Related Dee
Mrd5
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Basic Information
Medical Symptom
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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
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基础信息

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参考文献
MALACARDS
AD
Infant
<1/1000000
1
14
19

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