DYNC2H1 and ciliopathy: SRTD3 belongs to the “ciliopathies with major skeletal involvement” conditions according to the revised consensus workshop (Bonafe et al., 2015), and is caused by homozygous or compound heterozygous mutations in the DYNC2H1 gene (dynein, cytoplasmic 2, heavy chain 1; OMIM #603297), which encodes a component of the cytoplasmic dynein complex (Dagoneau et al., 2009; McInerney-Leo et al., 2015).