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 > PIGT-congenital disorder of glycosylation
PIGT-congenital disorder of glycosylation (PIGT-CDG)
Alternative Names: Phosphatidylinositol-Glycan Class T Protein Deficiency; Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, inherited, glycosylphosphatidylinositol anchor defect disorder, caused by an abnormal protein disrupting glycosylation. Symptoms manifest in infancy, including global developmental delay, intellectual disability, hypotonia (low muscle tone), hearing loss, seizures, hypermobile joints, facial dysmorphism (abnormal difference in structure), and skeletal, renal, cardiac, intestinal, and eye abnormalities.