STT3B-congenital disorder of glycosylation
STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG syndrome type IX
exact
CDG-Ix
exact
CDG1X
exact
STT3B-CDG
exact
STT3B-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IX
exact
congenital disorder of glycosylation type 1x
exact
congenital disorder of glycosylation type IX
exact
congenital disorder of glycosylation, type IX
related
SPBC1271.02