STT3A-congenital disorder of glycosylation
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).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG syndrome type Iw
exact
CDG-Iw
exact
CDG1W
exact
STT3A-CDG
exact
STT3A-congenital disorder of glycosylation
exact
congenital disorder of glycosylation type 1w
exact
congenital disorder of glycosylation type Iw
exact
congenital disorder of glycosylation, type Iw
related
congenital disorder of glycosylation, type Iw, autosomal recessive
exact
SPBC1271.02