Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder associated with the THO complex 6 gene (THOC6),[1] and is clinically characterized by developmental delay, moderate to severe intellectual disability (ID) and subtle dysmorphic facial features. This evidence concerns the gene THOC6 and THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.