Based on American College of Medical Genetics and Genomics (ACMG) guidelines, two of the variants are classified as pathogenic and one as likely pathogenic, found in the well-established genes of NFIX (associated with Malan Overgrowth Syndrome) and TSC2 (associated with Tuberous Sclerosis Complex), in addition to ABO which is less known to be implicated in neurodevelopment. This evidence concerns the gene TSC2 and tuberous sclerosis.