SLC39A8-CDG

Findings

No curated finding names SLC39A8-CDG 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

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

• central nervous system malformation
• congenital disorder of glycosylation type II
• congenital nervous system disorder
• developmental anomaly of metabolic origin
• disorder of protein N-glycosylation
• hereditary neurological disease
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: SLC39A8-CDG

Also called

carbohydrate deficient glycoprotein syndrome type IInCDG syndrome type IInCDG-IInCDG2Ncongenital disorder of glycosylation type 2ncongenital disorder of glycosylation type IIncongenital disorder of glycosylation, type IInSLC39A8 deficiency