SSR3-CDG
MONDO:0300000Mondo
Findings
No curated finding names SSR3-CDG yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.
Definition from the Mondo Disease Ontology (MONDO:0300000), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
2 names
Resolves to: SSR3-CDG
- Also called
- SSR3 congenital disorder of glycosylationSSR3 deficiency