GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
D36 entries · 18 genes, 18 conditions
Gene Symbols (18)
Conditions (18)
Danon diseaseDejerine-Sottas diseaseDRPLADuchenne muscular dystrophyDemyelinating ataxic neuropathy with IgM binding to GalNAc-GD1a and GM2 gangliosidesDERMATOLOGIC DISORDERS & NEUROMUSCULAR DISEASEDERMATOMYOPATHIES, IMMUNEDimethylaminopropionitrileDistal Hereditary Motor Neuronopathy (Vocal cord involvement) (HMND14; HMN 7B)Distal hereditary motor neuropathy I (HMND1; Distal HMN I)Distal infantile spinal muscular atrophy with diaphragm paralysis (HMNR1; DSMA1; SMARD1; HMN 6)Distal Motor Axonal Neuropathies: "Distal Lower Motor Neuron Syndromes"Distal Myopathies: HereditaryDistal Myopathy: MPD3Distal SMA: Upper limb predominance (HMND13; HMN 5C)Dorsal Root GanglionDystroglycans and Other proteins associated with the Dystrophin-Sarcoglycan complexDystrophin: Genotypes & Phenotype Correlations
Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.