CCDC115-CDG

Findings

No curated finding names CCDC115-CDG yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

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
• disorder of multiple glycosylation

Resolves to: CCDC115-CDG

Also called

carbohydrate deficient glycoprotein syndrome type IIoCDG syndrome type IIoCDG-IIoCDG2Ocongenital disorder of glycosylation type 2ocongenital disorder of glycosylation type IIocongenital disorder of glycosylation, type IIo