congenital disorder of glycosylation type I STT3B-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ix MONDO:0014271 STT3B-CDG carbohydrate deficient glycoprotein syndrome type IX MESH:C535751 STT3B-congenital disorder of glycosylation CDG syndrome type IX congenital disorder of glycosylation, type IX GARD:0017603 UMLS:C2931007 DOID:0080573 congenital disorder of glycosylation type 1x OMIM:615597 SCTID:733112007 CDG-Ix MEDGEN:419309 Orphanet:370924 CDG1X congenital disorder of glycosylation type IX 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). disorder of protein N-glycosylation obsolete_STT3B-CDG