All diagnosed families are described in Table 2, which includes two cases that were previously reported by our group: diaphanospondylodysostosis (BMPER gene) (Greenbaum et al., 2019) and LMOD3-associated Nemaline Myopathy (Berkenstadt et al., 2018). The gene discussed is LMOD3; the disease is diaphanospondylodysostosis.