POMGNT1 function has not been fully characterized.

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 is associated with mutations in the POMGNT1 gene on chromosome 1.

Genetic testing for POMGNT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 1 common feature.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3.

120 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3. Kisho has analyzed 85 by research type. Research spans Review / Meta-Analysis (34%), Epidemiology / Natural History (25%), and Other (24%).

Recent Publications

• Hao Y (2026). [PMID: 41267400](https://pubmed.ncbi.nlm.nih.gov/41267400/). *HGG advances*. [Diagnostic / Biomarker]

• Li S (2026). [PMID: 41379706](https://pubmed.ncbi.nlm.nih.gov/41379706/). *J Fam Psychol*. [Review / Meta-Analysis]

• Cyriac J (2026). [PMID: 41324838](https://pubmed.ncbi.nlm.nih.gov/41324838/). *Journal of religion and health*. [Review / Meta-Analysis]

• Onur D (2026). [PMID: 41861182](https://pubmed.ncbi.nlm.nih.gov/41861182/). *Medicine*. [Epidemiology / Natural History]

• Smith M (2026). [PMID: 41421115](https://pubmed.ncbi.nlm.nih.gov/41421115/). *Acta psychologica*. [Basic Science / Preclinical]

• Donohue GF (2026). [PMID: 41793381](https://pubmed.ncbi.nlm.nih.gov/41793381/). *European journal of pain (London, England)*. [Review / Meta-Analysis]

• Leach L (2025). [PMID: 40610977](https://pubmed.ncbi.nlm.nih.gov/40610977/). *BMC public health*. [Epidemiology / Natural History]

• Totenhagen CJ (2025). [PMID: 39779458](https://pubmed.ncbi.nlm.nih.gov/39779458/). *Family process*. [Review / Meta-Analysis]

• Leavitt CE (2025). [PMID: 39985402](https://pubmed.ncbi.nlm.nih.gov/39985402/). *Journal of sex & marital therapy*. [Epidemiology / Natural History]

• Svop K (2025). [PMID: 40187033](https://pubmed.ncbi.nlm.nih.gov/40187033/). *Eur J Oncol Nurs*. [Other]