The list includes most sphingolipidoses (ASAH1, GBA, GLB1, HEXA, HEXB, GM2A, PSAP, SMPD1), MPS (IDUA, SGSH, NAGLU, HGSNAT, GNS, ARSB, GUSB) and mucolipidoses (GNPTAB, GNPTG), as well as glycoproteinoses (MAN2B1, FUCA1, NEU1, CTSA), lipid storage diseases (LIPA), post‐translational modification defects (SUMF1), and lysosomal integral protein disorders (LAMP2, NPC1, NPC2, SCARB2, SLC17A5). The gene discussed is NPC1; the disease is Lipid storage disease.