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ABCDEFGHIJKLMNOPQRSTUVWXYZA–Z Index ↗
GENE — gene symbolCondition — named syndrome or disease — predominantly adult-onset; pediatric cases documented
S42 entries · 35 genes, 7 conditions
Gene Symbols (35)
SACSSBF1SBF2SCN4ASCN9ASCN10ASCN11ASCO2SEPN1 (SELENON)SERAC1SETX†SH3TC2SIL1SLC2A1SLC12A6SLC22A5SLC25A4SLC52A2SLC52A3SMN1/2SMCHD1SNAP25SOD1†SORD†SOX10SPEGSPTLC1SPTLC2STAC3STIM1SUCLA2SUCLG1SYNE1SYNE2SYT2
Conditions (7)
Salla syndromeSANDOSchwartz-Jampel syndromeSengers syndromeSilver syndromeSjögren-Larsson syndromeStuve-Wiedemann syndrome

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