* 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
DNM219p13.2602378H, REc, FdCharcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)6064823
DNM219p13.2602378H, REc, FdCentronuclear myopathy 1, 160150 (3)1601503
DNM219p13.2602378H, REc, FdCharcot-Marie-Tooth disease, axonal type 2M, 606482 (3)6064823
DNM219p13.2602378H, REc, FdLethal congenital contracture syndrome 5, 615368 (3)6153683