Don’t fight COG4-CDG (CDG-IIj) alone.
Find your community on the free RareGuru App.The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 263501
Definition
COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Abnormal protein O-linked glycosylation |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!