Congenital disorder of glycosylation

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Congenital disorder of glycosylation with developmental anomaly

ORPHA:371235Category

Also called CDG with developmental anomaly

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

B3GALNT2B4GALT1B4GAT1COL4A1CRPPADAG1FKRPFKTNGMPPBLARGE1PIGAPIGNPOMGNT1POMGNT2POMKPOMT1POMT2RXYLT1SLC35A2SLC35A3XYLT1

Orphanet records these genes on 9 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 18296UMLS C5680018

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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