ADAMTSL2 and lysosomal storage disease: Although initially suspected to be a lysosomal storage disorder (Lipson, Kan, & Kozlowski, 1987; Wraith, Bankier, Chow, Danks, & Sardharwalla, 1990), GPHYSD was later recognized to be caused by mutations in genes encoding components of the extracellular matrix (ECM) including a disintegrin and metalloproteinase with thrombospondin motifs like 2 (ADAMTSL2, MIM612277) (GPHYSD1) (Le Goff et al., 2008), fibrillin 1 (FBN1, MIM134797) (GPHYSD2) (Le Goff et al., 2011), and latent transforming growth factor β (TGF‐β) binding protein 3 (LTBP3, MIM 602090) (GPHYSD3) (McInerney‐Leo et al., 2016).