* Phenotype mapping Key

1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype

Gene Symbol Chromosomal LocationGene MIM number Mapping MethodPhenotype Phenotype MIM number Phenotype Mapping Key
RYR119q13.2180901A, Fd, H{Malignant hyperthermia susceptibility 1}, 145600 (3)1456003
RYR119q13.2180901A, Fd, HCentral core disease, 117000 (3)1170003
RYR119q13.2180901A, Fd, HMinicore myopathy with external ophthalmoplegia, 255320 (3)2553203
RYR119q13.2180901A, Fd, HNeuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)1170003
RYR119q13.2180901A, Fd, HKing-Denborough syndrome, 145600 (3)1456003