Congenital cataracts, hearing loss, and low serum copper and ceruloplasmin, phenotypes reported to be present in other SLC33A1 mutations (Schlipf et al., 2010; Huppke et al., 2012) were not detected in the Slc33a1wt/mut mice and individuals with SPG42 (Fig. S3). This evidence concerns the gene SLC33A1 and early-onset non-syndromic cataract.