Synonyms: Beta-1,4-galactosyltransferase deficiency | CDG syndrome type IId | CDG-IId | CDG2D | Carbohydrate deficient glycoprotein syndrome type IId | Congenital disorder of glycosylation type 2d | Congenital disorder of glycosylation type IId
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation hydrocephaly hypotonia myopathy and coagulation anomalies. To date only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
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 2026
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B4GALT1-CDG?
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Advocacy Organizations
Biliary Atresia and Liver Care Africa
To create awareness, provide support, and advocate for better healthcare services for individuals and families affected by biliary atresia and liver diseases.
CDG CARE
CDG CARE (Community Alliance and Resource Exchange) is a 501(c)(3) nonprofit public charity dedicated to representing all Congenital Disorders of Glycosylation (CDG) — a group of rare, inherited metabolic disorders that disrupt a complex enzymatic process essential to nearly every system in the body. Founded by parents seeking information, connection, and hope, CDG CARE has grown into a global organization serving patients, families, clinicians, and researchers across more than 200 known CDG types. Our mission is to raise awareness, support families, and fund research to improve the diagnosis, care, and treatment of CDGs. We pursue this mission through programs that meet families wherever they are in their journey, from the moment of diagnosis through the search for therapies. At every level of our work, CDG CARE is driven by a simple belief: that no family facing a CDG diagnosis should feel alone, and that together... families, scientists, clinicians, and advocates, we can move research, therapies, and hope forward.
CDG Canada
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
Dandy Walker Institute
research genetic testing and finding cures to improve treatment outcomes
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.