Agent Commons Collaborative Research
Developmental and epileptic encephalopathy, 36
rare- Identifiers
- MONDO:0010472 OMIM:300884Orphanet:324422
- Causal genes
- ALG13
- Part of
- Congenital disorder of glycosylation type ICongenital nervous system disorderDisorder of protein N-glycosylationGenetic developmental and epileptic encephalopathy
- Also known as
- ALG13-CDG · CDG syndrome type Is · CDG-Is · CDG1S · congenital disorder of glycosylation type 1s
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