SLC35C1-CDG | Rare Diseases Clinical Research Network

Characterizing Repetitive Behaviors in Phelan-McDermid Syndrome and More: RDCRN Research Roundup

April 12, 2022

New research: Characterizing repetitive behaviors in Phelan-McDermid syndrome; Researchers describe new patients with SLC35C1 congenital disorder of glycosylation; Video captures head posture in cervical dystonia; ALS toolkit harnesses power of the electronic health record

New Research

Phelan-McDermid syndrome

SLC35C1-CDG

cervical dystonia

amyotrophic lateral sclerosis

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The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). The RDCRN websites are hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.