However, ACCSL and TSPAN18 have not been implicated in neurological or endocrine phenotypes, and given that biallelic mutations in MADD have been previously linked with developmental delay and hypopituitarism (37, 38) (Supplemental Figure 2), we were confident that the causative variant in the probands was the splice site mutation in MADD. This evidence concerns the gene TSPAN18 and hypopituitarism.