In 2013, Beaulieu et al discovered that homozygous mutations in THOC6 were linked for the first time to Beaulieu–Boycott–Innes syndrome (BBIS, OMIM 613680), characterized by syndromic autosomal recessive intellectual disability (ID).[1] To date, THOC6 pathogenic variants have been observed in patients with moderate to severe ID, accompanied by facial dysmorphic features and severe congenital malformations.[6,7]. Here, THOC6 is linked to THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.