Features include always present findings: Abnormal glycosylation, Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of bone origin, and Decreased circulating ceruloplasmin concentration and others; and common findings: Hepatic failure, Generalized hypotonia, Global developmental delay, and Hepatosplenomegaly. 23 total HPO annotations.

VMA22 function has not been fully characterized.

CCDC115-CDG is associated with mutations in the VMA22 gene on chromosome 2.

Genetic testing for VMA22 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 4 common features.

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

No clinical trials have been registered for CCDC115-CDG.

2 publications have been identified in PubMed for CCDC115-CDG. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

• Liu Y (2026). [PMID: 41499939](https://pubmed.ncbi.nlm.nih.gov/41499939/). *Mol Genet Metab*. [Other]

• Geerts CJ (2025). [PMID: 41037859](https://pubmed.ncbi.nlm.nih.gov/41037859/). *Mol Genet Metab*. [Review / Meta-Analysis]