Rare Disease Library

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Adult Krabbe disease

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

Tay-Sachs disease, adult form

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