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SLC35A2-congenital disorder of glycosylation
rareSLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
- Identifiers
- MONDO:0010478 OMIM:300896Orphanet:356961
- Causal genes
- SLC35A2
- Part of
- Congenital disorder of glycosylation type IICongenital nervous system disorderDevelopmental anomaly of metabolic originDisorder of multiple glycosylationGenetic developmental and epileptic encephalopathy
- Also known as
- CDG syndrome type IIm · CDG-IIm · CDG2M · congenital disorder of glycosylation type 2m · congenital disorder of glycosylation type IIm
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