Pathogenic variants in this gene cause autosomal dominant cardiospondylocarpofacial syndrome (CSCFS, MIM: 157800) and frontometaphyseal dysplasia 2 (FMD2, MIM: 61737), depending on the loss- (LoF) or gain-of-function (GoF) nature of the causal variant. This evidence concerns the gene MAP3K7 and frontometaphyseal dysplasia 2.