The first (case 26) was compound heterozygous for four known missense variants (of which three on the maternal allele that have been described as a pathogenic haplotype) in THOC6, causing Beaulieu-Boycott-Innes syndrome (OMIM# 613680). The gene discussed is THOC6; the disease is THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.