Rare Disease Library

Juvenile-onset Steinert myotonic dystrophy

Juvenile-onset Steinert disease · Juvenile-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

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Juvenile CLN1 disease

Juvenile neuronal ceroid lipofuscinosis type 1

Juvenile CLN10 disease

Juvenile neuronal ceroid lipofuscinosis type 10

Juvenile CLN2 disease

Juvenile neuronal ceroid lipofuscinosis type 2

Juvenile CLN3 disease

Juvenile neuronal ceroid lipofuscinosis type 3

Juvenile CLN5 disease

Juvenile neuronal ceroid lipofuscinosis type 5

Juvenile CLN6 disease

Juvenile neuronal ceroid lipofuscinosis type 6

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

Late-onset Steinert myotonic dystrophy

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

Mild Canavan disease

Juvenile Canavan disease

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

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

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

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

Protracted juvenile CLN3 disease

Protacted neuronal ceroid lipofuscinosis type 3

Sandhoff disease, juvenile form

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

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Tay-Sachs disease, juvenile form

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