SSR4-congenital disorder of glycosylation

Findings

No curated finding names SSR4-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked 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 I
• developmental anomaly of metabolic origin
• disorder of protein N-glycosylation
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: SSR4-congenital disorder of glycosylation

Also called

carbohydrate deficient glycoprotein syndrome type IyCDG syndrome type IyCDG-IyCDG1Ycongenital disorder of glycosylation type 1ycongenital disorder of glycosylation type Iycongenital disorder of glycosylation, type Iy, X-linked recessiveSSR4-CDG