Features include always present findings: Global developmental delay, Abnormal glycosylation, and Elevated circulating hepatic transaminase concentration; and common findings: Spastic tetraplegia, Decreased circulating ceruloplasmin concentration, Hypoplasia of the corpus callosum, and Generalized tonic seizure and others. 17 total HPO annotations.

COG2 encodes component of oligomeric golgi complex 2 (738 aa). Required for normal Golgi morphology and function Highest expression in Brain Cerebellar Hemisphere (30.8 TPM) and Brain Cerebellum (29.8 TPM).

Congenital disorder of glycosylation, type IIq has limited evidence linking it to mutations in the COG2 gene on chromosome 1.

COG2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for COG2 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for congenital disorder of glycosylation, type IIq has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for congenital disorder of glycosylation, type IIq.

168 publications have been identified in PubMed for congenital disorder of glycosylation, type IIq. Research spans Basic Science / Preclinical (41%), Review / Meta-Analysis (21%), and Case Report / Case Series (12%).