Inborn errors of glycosylation or other specified protein modification (Q40196): Difference between revisions
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Revision as of 05:55, 13 August 2026
Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterised by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C54 |
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| English | Inborn errors of glycosylation or other specified protein modification |
Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterised by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits. |
