| 'synaptic Ras GTPase activating protein 1'-gerelateerde epileptische encefalopathie met ontwikkelingsachterstand (aandoening) | | 'synaptic Ras GTPase activating protein 1'-gerelateerde epileptische encefalopathie met ontwikkelingsachterstand | | SYNGAP1-gerelateerde epileptische encefalopathie met ontwikkelingsachterstand
| | 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. |
| | Id | 1222656005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 544254 |
| SNOMED CT to ICD-10 extended map | | Target | G40.4 | | Rule | TRUE | | Advice | ALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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