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ABCDEFGHIJKLMNOPQRSTUVWXYZA–Z Index ↗
GENE — gene symbolCondition — named syndrome or disease — predominantly adult-onset; pediatric cases documented
C20 entries · 14 genes, 6 conditions
Gene Symbols (14)
CACNA1ACACNA1CCACNA1SCAPN1CLN3CNBPCOQ2COQ4COQ7CRYAB†CYP7B1†C9orf72†C12orf65C19orf12
Conditions (6)
Cerebrotendinous xanthomatosisCharcot-Marie-Tooth disease (CMT)Cockayne syndromeCentral Core DiseaseCentronuclear myopathyCowchock syndrome

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to the primary source.