C12orf57 and temtamy syndrome: Another advantage of both genome and exome sequencing as opposed to targeted gene panels is the potential to detect new genotype–phenotype correlations or the possibility of detecting a clinically relevant genotype that may or may not be directly related to the original phenotype but can alter the patient's life or his management plan drastically as in the case of families 16 and 21 with a detected pathogenic variant in C12orf57 gene causing Temtamy syndrome and the Chr16.11P2 deletion syndrome, respectively.