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ORPHA:468684Disease
Also called CDG syndrome type IIo · CDG-IIo · CDG2O · Carbohydrate deficient glycoprotein syndrome type IIo · Congenital disorder of glycosylation type 2o · Congenital disorder of glycosylation type IIo
What it is
A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, 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.
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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