Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > GALNT2-congenital disorder of glycosylation
GALNT2-congenital disorder of glycosylation (GALNT2-CDG)
Alternative Names: Polypeptide N-Acetylgalactosaminyltransferase 2 Deficiency
Disease Category: Congenital Disorders of Glycosylation
A very rare, multisystemic, inherited condition caused by an abnormal enzyme which disrupts O-glycosylation. Symptoms manifest during infancy and childhood, including global developmental delay, intellectual disability, behavioral abnormalities, epilepsy, insomnia, stunted growth, facial dysmorphism (abnormal difference in structure), decreased HDL-cholesterol, and white matter brain lesions.