/STT3B-congenital disorder of glycosylation

STT3B-congenital disorder of glycosylation

Rare Disease

MONDO:0014271

Also Known As

CDG syndrome type IXCDG-IxCDG1XSTT3B-CDGSTT3B-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IXcongenital disorder of glycosylation type 1xcongenital disorder of glycosylation type IXCDG IXcongenital disorder of glycosylation, type IX

Definition

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).