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Synonyms: Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency | Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency | Congenital disorder of glycosylation type II due to MAN1B1 deficiency | Intellectual disability-truncal obesity syndrome

MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability delayed motor development hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism downslanting palpebral fissures large low-set ears hypoplastic nasolabial fold thin upper lip) hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).

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 Data version December 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.