Autosomal dominant hereditary disorder
Developmental hereditary disorder
Epileptic encephalopathy
Hereditary disorder of nervous system
Intellectual disability
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Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)
SYNGAP1-related developmental and epileptic encephalopathy
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy
A rare genetic developmental and epileptic encephalopathy with characteristics of developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). The SYNGAP1 gene (6p21.32) encodes the synaptic Ras-GTPase-activating protein 1, mainly expressed in the synapses of excitatory neurons. Loss of function mutations in SYNGAP1 impairs neuronal homeostasis and development. This disorder is caused by heterozygous pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions encompassing the SYNGAP1 gene. The pattern of inheritance is autosomal dominant.
Id1222656005
StatusPrimitive
Finding siteCerebrum
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified