Rare Disease Library

Mild Canavan disease

Juvenile Canavan disease

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Cap myopathy

Cap disease

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

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 dermatomyositis

Juvenile DM

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

Juvenile-onset Steinert myotonic dystrophy

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

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

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

Severe Canavan disease

Infantile Canavan disease · Neonatal Canavan disease

Tay-Sachs disease, juvenile form

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