Rare Disease Library

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

Alpha-mannosidosis, infantile form

Lysosomal alpha-D-mannosidase deficiency, infantile form

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Glycerol kinase deficiency, juvenile form

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

Metachromatic leukodystrophy, juvenile form

Arylsulfatase A deficiency, juvenile form · MLD, juvenile form

Metachromatic leukodystrophy, late infantile form

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

OBSOLETE: Glycerol kinase deficiency, infantile form

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

Pituitary gigantism

Hypophyseal gigantism · Infantile and juvenile forms of acromegaly

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

Serine biosynthesis pathway deficiency, infantile/juvenile form

Tay-Sachs disease, infantile form

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