GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
S71 entries · 48 genes, 23 conditions
Gene Symbols (48)
Conditions (23)
Salla syndromeSANDOSchwartz-Jampel syndromeSengers syndromeSilver syndromeSjögren-Larsson syndromeStuve-Wiedemann syndromeSarcoidosisScapular wingingSchwann Cell DevelopmentSchwartz-Jampel Type 2/Stuve-Wiedemann syndrome (SWS)SemaphorinsSensory (± Ataxic) neuropathy with anti-GD1b & other Disialosyl antibodiesSensory nerves: Lower trunk & ThighSensory NeuronopathiesSERUM IgM BINDING TO MYELIN-ASSOCIATED GLYCOPROTEIN (MAG) IN SENSORY-MOTOR NEUROPATHIESShort QT (SQT) SyndromesSj\u00f6gren-Larsson syndromeSMA 5q: Classification (without treatment)Specific associated clinical syndromesSpinal Muscular Atrophy 2SYPHILIS: Tabes dorsalisSystemic connective tissue disorders & Vasculitis: Specific syndromes
Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.