CLDN9 and THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome: It should be noted that the deletions in P1 and P3 extend further in the proximal direction and include THOC6 (MIM #613680, Beaulieu-Boycott-Innes Syndrome) and CLDN9 (deafness, autosomal recessive 116, provisional, #619093).