| '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 |
| SYNGAP1-DEE - SYNGAP1 developmental and epileptic encephalopathy
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy
SYNGAP1 developmental and epileptic encephalopathy
|
| A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). |
