COG7-congenital disorder of glycosylation

Findings

No curated finding names COG7-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Death in infancy · Congenital onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• congenital disorder of glycosylation type II
• defect in conserved oligomeric Golgi complex
• developmental anomaly of metabolic origin

Resolves to: COG7-congenital disorder of glycosylation

Also called

carbohydrate deficient glycoprotein syndrome type IIeCDG syndrome type IIeCDG-IIeCDG2ECOG7-CDGcongenital disorder of glycosylation type 2econgenital disorder of glycosylation type IIe