B4GALT1-congenital disorder of glycosylation
Findings
No curated finding names B4GALT1-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
B4GALT1-CDG is a congenital disorder of glycosylation characterized 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 (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
Definition from the Mondo Disease Ontology (MONDO:0011772), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal isoelectric focusing of serum transferrinHPOHP:0003160
- 1 of 1 reported patient
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased muscle massHPOHP:0003199
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- B4GALT1HGNC:924
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: B4GALT1-congenital disorder of glycosylation
- Also called
- B4GALT1-CDGBeta-1,4-galactosyltransferase deficiencycarbohydrate deficient glycoprotein syndrome type IIdCDG syndrome type IIdCDG-IIdCDG2Dcongenital disorder of glycosylation type 2dcongenital disorder of glycosylation type IId