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 > SRD5A3-congenital disorder of glycosylation
SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG)
Alternative Names: Congenital Disorder of Glycosylation Type Iq (CDG1Q); SRD5A3 deficiency
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, inherited condition affecting mainly the neurological system, caused by an abnormal enzyme disrupting N-linked glycosylation. Symptoms manifest in infancy, including balance and coordination problems (ataxia), hypotonia (low muscle tone), facial dysmorphism (abnormal difference in body structure), kyphosis (outward curvature of the spine), joint hypermobility, and cardiac, eye, and dermatological problems.