B4GALT1-CDG (CDG-IId)
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79332
Definition
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Hydrocephalus |
| Psychotic mentation |
| Dandy-Walker malformation |
| Metatarsus adductus |
| Macrocephaly |
| Aplasia/Hypoplasia of toe |
| Muscular hypotonia |
| Myopathy |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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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