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Synonyms: CDG syndrome type Ix | CDG-Ix | CDG1X | Carbohydrate deficient glycoprotein syndrome type Ix | Congenital disorder of glycosylation type 1x | 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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.