GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
C47 entries · 25 genes, 22 conditions
Gene Symbols (25)
Conditions (22)
Cerebrotendinous xanthomatosisCharcot-Marie-Tooth disease (CMT)Cockayne syndromeCentral Core DiseaseCentronuclear myopathyCowchock syndromeC. Anti-GM1 AntibodiesCarnitine acetyltransferase deficiencyCarnitine DisordersCATECHOLAMINE-RELATED MOLECULES & DISORDERSCeliac Disease (Gluten-sensitive enteropathy)Cell Death/Damage: MechanismsCHANNEL TYPES: GeneralChorea-Acanthocytosis (Neuroacanthocytosis; CHAC)Chronic Immune Demyelinating Neuropathies: VariantsCHRONIC IMMUNE POLYNEUROPATHIES: AXONALClassification of Acute Immune NeuropathiesClassification of Toxic MyopathiesCMT 1CMT IACMYO13: Myopathy, Congenital, Bailey-BlochCoenzyme Q10 Deficiency
Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.