Features include always present findings: Poor head control, Strabismus, Short stature, and Seizure and others; and common findings: Cleft palate and Global developmental delay. 60 total HPO annotations.

MAN2B2 encodes mannosidase alpha class 2B member 2 (1,009 aa). Specifically cleaves terminal alpha 1,6-linked mannose residues on Man3GlcNAc and Man2GlcNAc core oligosaccharides generated by N-glycan degradation pathways, having little activity, if any, on larger mannose oligosaccharides. Highest expression in Artery Aorta (65.1 TPM) and Artery Coronary (46.0 TPM).

Congenital disorder of glycosylation type 1EE with or without immunodeficiency is associated with mutations in the MAN2B2 gene on chromosome 4.

The MAN2B2 protein participates in MAN2B2 hydrolyses GlcNAc (Man)3 to GlcNAc:Man pathway.

MAN2B2 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for MAN2B2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital disorder of glycosylation type 1EE with or without immunodeficiency has been reported in the published literature.

Phenotype severity distribution: 49 always present features, 2 common features.

No clinical trials have been registered for congenital disorder of glycosylation type 1EE with or without immunodeficiency.

200 publications have been identified in PubMed for congenital disorder of glycosylation type 1EE with or without immunodeficiency. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (16%), and Epidemiology / Natural History (13%).