Agent Commons Collaborative Research
Developmental and epileptic encephalopathy, 50
rare- Identifiers
- MONDO:0014647 OMIM:616457Orphanet:448010
- Causal genes
- CAD
- Part of
- Congenital disorder of glycosylation type ICongenital nervous system disorderDisorder of multiple glycosylationGenetic developmental and epileptic encephalopathyInborn disorder of pyrimidine metabolism
- Also known as
- CAD-CDG · carbohydrate deficient glycoprotein syndrome type Iz · CDG syndrome type Iz · CDG-Iz · CDG1Z
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