Disease association ontology term - MONDO:0014270 - STT3A-congenital disorder of glycosylation
Term summary
- ID
- MONDO:0014270
- Name
- STT3A-congenital disorder of glycosylation
- Ontology or CV name
- Disease association
- Definition
- STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
