Get in touch with RARE Concierge.

Contact RARE Concierge


Synonyms: CDG syndrome type Ia | CDG-Ia | CDG1A | Carbohydrate deficient glycoprotein syndrome type Ia | Congenital disorder of glycosylation type 1a | Congenital disorder of glycosylation type Ia | Phosphomannomutase 2 deficiency

A rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction abnormal fat distribution inverted nipples strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old) and the adult stable disability type. Infants usually develop ataxia psychomotor delay and extraneurological manifestations including failure to thrive enteropathy hepatic dysfunction coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

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

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).

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.