Rare Disease Library

Adult-onset Steinert myotonic dystrophy

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

Adult CLN1 disease

Adult neuronal ceroid lipofuscinosis type 1 · Céroïde lipofuscinose neuronale adulte type 1

Adult CLN5 disease

Adult neuronal ceroid lipofuscinosis type 5

Adult CLN6 disease

Adult neuronal ceroid lipofuscinosis type 6

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Adult Krabbe disease

Adult Refsum disease

Classic Refsum disease · HMSN 4

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

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

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

Juvenile-onset Steinert myotonic dystrophy

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

Late-onset Steinert myotonic dystrophy

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

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

Sandhoff disease, adult form

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

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease