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Start free with EleplanB4GALT1-CDG
ORPHA:79332Disease
Also called 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
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
4Common30–79%
12- Abnormal facial shape
- Abnormality of the coagulation cascade
- Axial hypotonia
- Decreased LDL cholesterol concentration
- Elevated circulating hepatic transaminase concentration
- Low-set ears
- Myopia
- Prolonged partial thromboplastin time
- Reduced antithrombin III activity
- Reduced protein C activity
- Reduced protein S activity
- Wide nasal bridge
Sometimes5–29%
18- Abnormal bleeding
- Cerebellar hypoplasia
- Dandy-Walker malformation
- Diarrhea
- Edema
- Hepatomegaly
- High myopia
- Hydrocephalus
and 10 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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