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ABCDEFGHIJKLMNOPQRSTUVWXYZA-Z Index
GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
R18 entries · 8 genes, 10 conditions
Gene Symbols (8)
RAB7ARAPSNRFC1†RNF216+RYR1RYR2†RFC1\U2020RYR2\U2020
Conditions (10)
Refsum disease+Rett syndromeRiley-Day syndrome (FD)Rippling muscle syndromeRecessive, Axonal CMTRepeat Sequences: Disease AssociationsRhabdomyolysis, Exercise-related: AssociationsRhabdomyolysis, Recurrent (RHABDO2)Rippling Muscle SyndromesRituximab Infusion Protocol

Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.