DMD and Duchenne muscular dystrophy: Moreover, Karaca et al. [129] described two DMD brothers (with exons 46–47 deletions), both diagnosed with ID who, in addition to the dystrophin CNV, also presented a homozygous pathogenic missense variant in DHCR7, a known ASD gene also associated with Smith-Lemli-Opitz Syndrome (#MIM270400).