ABO and tuberous sclerosis: 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.