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Synonyms: CDG syndrome type IIn | CDG-IIn | CDG2N | Carbohydrate deficient glycoprotein syndrome type IIn | Congenital disorder of glycosylation type 2n | Congenital disorder of glycosylation type IIn | SLC39A8 deficiency

A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay severe intellectual disability hypotonia and variable additional features including short stature cranial asymmetry seizures strabismus recurrent infections and osteopenia among others. Laboratory analysis reveals decreased blood levels of zinc and manganese as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo- monosialo- disialo and trisialo-transferrin consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.

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 Data version April 2024

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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

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Portuguese Association for CDG

The APCDG aims to holistically support families affected by a CDG. Our mission based on the pillars of disease awareness, education, research and to subsequently, speed up the development of therapies that will significantly benefit patients and their family members. We believe that only by adopting a patient-centric approach we will find ways to improve their quality of life.

Clinical Trials

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