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Synonyms: CDG syndrome type IIL | CDG-IIL | CDG2L | Congenital disorder of glycosylation type 2l | Congenital disorder of glycosylation type IIL

A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay hypotonia failure to thrive hematological/immunological abnormalities recurrent infections liver involvement (with hepatosplenomegaly cholestasis fibrosis or cirrhosis) and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly broad palpebral fissures and retrognathia) hypohidrosis hyperkeratosis and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum cerebral and cerebellar atrophy and enlarged ventricles.

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).

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.