MGAT2-CDG (CDG-IIa)
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79329
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).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Colorado Springs, CO, 80937, Toll Free: (866) 295-7910 Email: info@cdgcare.com Url: http://cdgcare.com/ Name: Portugese Association for CDG and other Rare Metabolic Diseases APCDG-DMR Url: http://www.apcdg.com/
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