Rare Disease Library

Late-onset Steinert myotonic dystrophy

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

Adult-onset Steinert myotonic dystrophy

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

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Childhood-onset Steinert myotonic dystrophy

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

Congenital-onset Steinert myotonic dystrophy

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

Erythroderma desquamativum

Leiner disease

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

Juvenile-onset Steinert myotonic dystrophy

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

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Tay-Sachs disease, adult form

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