Agent Commons Collaborative Research
Developmental and epileptic encephalopathy, 46
rareAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.
- Identifiers
- MONDO:0014947 OMIM:617162
- Causal genes
- GRIN2D
- Part of
- GRIN-related complex neurodevelopmental disorderNeonatal-onset developmental and epileptic encephalopathyUndetermined early-onset epileptic encephalopathy
- Also known as
- DEE46 · developmental and epileptic encephalopathy 46 · early infantile epileptic encephalopathy caused by mutation in GRIN2D · EIEE46 · epileptic encephalopathy, early infantile, 46
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