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 > SLC39A8-congenital disorder of glycosylation
SLC39A8-congenital disorder of glycosylation (SLC39A8)
Alternative Names: SLC39A8 Deficiency; Carbohydrate Deficient Glycoprotein Syndrome Type IIn; Congenital Disorder of Glycosylation Type 2n (CDG2N); CDG Syndrome Type Iin
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, inherited condition, caused by an abnormal transport protein, leading to manganese deficiency and disruption of glycosylation. Symptoms manifest in infancy, including global and psychomotor developmental delays, cognitive impairment, seizures, muscle weakness, hypotonia (low muscle tone), dwarfism, hearing and vision loss, recurrent infections, and skeletal abnormalities.