Activator Deficiency/GM2 Gangliosidosis Alpha-Mannosidosis Aspartylglucosaminuria Cholesteryl ester storage disease Chronic Hexosaminidase A Deficiency Cystinosis Danon disease Fabry disease Farber Disease Fucosidosis Galactosialidosis Gaucher Disease Type I Gaucher Disease Type II Gaucher Disease Type III GM1 Gangliosidosis - Infantile GM1 Gangliosidosis - Late infantile/Juvenile GM1 Gangliosidosis - Adult/Chronic I-Cell disease/Mucolipidosis II Infantile Free Sialic Acid Storage Disease/ISSD Juvenile Hexosaminidase A Deficiency Krabbe Disease/Infantile Onset Krabbe Disease/Late Onset Metachromatic Leukodystrophy Mucopolysaccharidoses disorders Pseudo-Hurler polydystrophy/Mucolipidosis IIIA MPSI Hurler Syndrome MPSI Scheie Syndrome MPS I Hurler-Scheie Syndrome MPS II Hunter syndrome Sanfilippo Type A/MPS III A Sanfilippo Type B/MPS III B Sanfilippo Type C/MPS III C Sanfilippo Type D/MPS III D Morquio Type A/MPS IVA Morquio Type B/MPS IVB MPS IX Hyaluronidase Deficiency MPS VI Maroteaux-Lamy MPS VII Sly Syndrome Mucolipidosis I/ Sialidosis Mucolipidosis IIIC Mucolipidosis IV Multiple sulfatase deficiency Niemann-Pick disease Type A Niemann-Pick disease Type B Niemann-Pick disease Type C Neuronal Ceroid Lipofuscinoses CLN6 Disease - Atypical Late Infantile CLN6 Disease - Late Onset variant CLN6 Disease - Early Juvenile Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disease Finnish Variant Late Infantile CLN5 Jansky-Bielschowsky/Late infantile CLN2/TPP1 Disease Kufs/Adult-onset NCL/CLN4 disease Northern Epilepsy/variant late infantile CLN8 Santavuori-Haltia/Infantile CLN1/PPT disease Beta-Mannosidosis Pompe disease/Glycogen storage disease II Pycnodysostosis Sandhoff Disease/Adult Onset/GM2 Gangliosidosis Sandhoff Disease/GM2 Gangliosidosis - Infantile Sandhoff Disease/GM2 gangliosidosis - Juvenile Schindler disease Salla disease/Sialic Acid Storage Disease Tay-Sachs/GM2 gangliosidosis Wolman Disease
