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 > MAN1B1-congenital disorder of glycosylation
MAN1B1-congenital disorder of glycosylation (MAN1B1)
Alternative Names: Congenital Disorder of Glycosylation Type IIu; Rafiq Syndrome; MAN1B1 Deficiency; Intellectual Disability-Truncal Obesity Syndrome
Disease Category: Congenital Disorders of Glycosylation
A rare, inherited condition, primarily affecting the central nervous system, caused by an abnormal protein disrupting N-linked glycosylation. Symptoms manifest during infancy, including intellectual and developmental disabilities, hypotonia (low muscle tone), speech problems, truncal obesity, and facial dysmorphism (abnormal difference in structure). Some individuals have skin laxity, joint hypermobility, and behavioral problems.