Disease association ontology term - MONDO:0010478 - SLC35A2-congenital disorder of glycosylation
Term summary
- ID
- MONDO:0010478
- Name
- SLC35A2-congenital disorder of glycosylation
- Ontology or CV name
- Disease association
- Definition
- SLC35A2-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).
