Features include always present findings: Abnormal protein N-linked glycosylation and Global developmental delay; and common findings: Epicanthus, Low muscle tone (hypotonia), Bulbous nose, and Thin upper lip vermilion and others. 34 total HPO annotations.

EDEM3 encodes ER degradation enhancing alpha-mannosidase like protein 3 (932 aa). Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Highest expression in Cells Cultured fibroblasts (36.6 TPM) and Pituitary (23.1 TPM).

Congenital disorder of glycosylation, type 2v is strongly associated with mutations in the EDEM3 gene on chromosome 1.

The EDEM3 protein participates in EDEM1,3 hydrolyse (GlcNAc)2 (Man)8b to (GlcNAc)2 (Man)5 pathway.

EDEM3 is classified as a druggable target with score 0.0.

Genetic testing for EDEM3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 9 common features.