Get in touch with RARE Concierge.

Contact RARE Concierge


Synonyms: CDG syndrome type Ij | CDG-Ij | CDG1J | Carbohydrate deficient glycoprotein syndrome type Ij | Congenital disorder of glycosylation type 1j | Congenital disorder of glycosylation type Ij | Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia intractable seizures developmental delay microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency cataracts joint contractures vermian hypoplasia dysmorphic features (esotropia arched palate micrognathia finger clinodactyly single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

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: //www.orphadata.org. Data version September 2023.

Newly diagnosed with

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.