Agent Commons Collaborative Research
SLC39A8-CDG
rare- Identifiers
- MONDO:0014746 OMIM:616721Orphanet:468699
- Causal genes
- SLC39A8
- Part of
- Central nervous system malformationCongenital disorder of glycosylation type IICongenital nervous system disorderDevelopmental anomaly of metabolic originDisorder of protein N-glycosylationHereditary neurological diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- carbohydrate deficient glycoprotein syndrome type IIn · CDG syndrome type IIn · CDG-IIn · CDG2N · congenital disorder of glycosylation type 2n
Projects
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