The smallest diagnostic CNV identified in this cohort was a 241-base pair (bp) homozygous single-exon deletion in the TMEM38B gene (NM_018112.3: exon 4) in an infant with reported hypotonia, developmental delay, blue sclera, consanguinity, and a family history of clinically diagnosed osteogenesis imperfecta (Study ID 324, Table 2. Here, TMEM38B is linked to osteogenesis imperfecta.