Rare Disease Library

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

Alpha-mannosidosis, infantile form

Lysosomal alpha-D-mannosidase deficiency, infantile form

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

GM2 gangliosidosis, AB variant

Hexosaminidase activator deficiency

Metachromatic leukodystrophy, late infantile form

Arylsulfatase A deficiency, late infantile form · MLD, late infantile form

OBSOLETE: Tay-Sachs disease, B1 variant

OBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

Sandhoff disease, adult form

GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form

Sandhoff disease, infantile form

GM2 gangliosidosis, Sandhoff variant, infantile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form

Sandhoff disease, juvenile form

Beta-hexosaminidase subunit beta deficiency, juvenile form · GM2 gangliosidosis, Sandhoff variant, juvenile form

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form

Tay-Sachs disease, juvenile form

Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form