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 > ALG6-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation (ALG6-CDG)
Alternative Names: Congenital Disorder of Glycosylation Type 1c (CDG-1C or CDG1C)
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, inherited condition, manifesting in infancy, caused by N-linked glycosylation disruption. Symptoms include failure to thrive, hypotonia (low muscle tone), developmental delay, intellectual disability, sleep, speech, and behavioral problems, seizures, ataxia (impaired balance or coordination), temporary paralysis, vision and hearing loss, liver disease, and heart muscle weakness.