MGAT2-congenital disorder of glycosylation
Findings
No curated finding names MGAT2-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).
Definition from the Mondo Disease Ontology (MONDO:0008908), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
69 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.
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- 3 of 3 reported patients
- Severe global developmental delayHPOHP:0011344
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- Type II transferrin isoform profileHPOHP:0012301
- 3 of 3 reported patients
- Abnormal facial shape
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.
- MGAT2HGNC:7045
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: MGAT2-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIaCDG syndrome type IIaCDG-IIaCDG2Acongenital disorder of glycosylation type 2acongenital disorder of glycosylation type IIaMGAT2-CDGN-acetylglucosaminyltransferase 2 deficiency