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.
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All Diseases > SLC35C1-congenital disorder of glycosylation
SLC35C1-congenital disorder of glycosylation (SLC35C1-CDG)
Alternative Names: Leukocyte Adhesion Deficiency Type II (LAD II or CDG2C; formerly known as CDG IIc)
Disease Category: Congenital Disorders of Glycosylation
A rare, inherited condition primarily affecting the immune, endocrine, and nervous systems. It is caused by an abnormal transport protein that disrupts glycosylation. Symptoms manifest in infancy or childhood, including recurrent bacterial infections, the Bombay blood type, short stature, developmental delay, cognitive impairment, behavioral problems, seizures, and hypotonia (low muscle tone).