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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 > SLC35A2-congenital disorder of glycosylation

SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG)

Alternative Names: Congenital Disorder of Glycosylation Type Iim (CDG2M)

Disease Category: Congenital Disorders of Glycosylation

A rare, X-linked dominant, inherited condition caused by an abnormal enzyme disrupting glycosylation. Symptoms manifest in infancy, including seizures, hypotonia (low muscle tone), global developmental delay, failure to thrive, splenomegaly (enlarged spleen), hearing and vision loss, ataxia (impaired balance or coordination), hypertrophic cardiomyopathy, coarse facial features, short limbs, scoliosis, and thrombocytopenia (low blood platelet count).

Research groups studying this disease