SSR3-CDG
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.
MONDO:0005500
congenital disorder of glycosylation type I
is_a
SSR3 congenital disorder of glycosylation
exact
SSR3 deficiency
exact