Rare Disease Library

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

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

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

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

Infantile CLN1 disease

Infantile neuronal ceroid lipofuscinosis type 1

Infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

Infantile Krabbe disease

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

Infantile Refsum disease

IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

Late infantile CLN1 disease

Late infantile neuronal ceroid lipofuscinosis type 1

Late infantile CLN10 disease

Late infantile neuronal ceroid lipofuscinosis type 10

Late infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Late infantile CLN5 disease

Late infantile neuronal ceroid lipofuscinosis type 5

Late infantile CLN6 disease

Late infantile neuronal ceroid lipofuscinosis type 6

Late infantile CLN8 disease

Late infantile neuronal ceroid lipofuscinosis type 8

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Lethal infantile mitochondrial myopathy

LIMM · LIMD

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

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

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

Sandhoff disease, infantile form

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

Severe Canavan disease

Infantile Canavan disease · Neonatal Canavan disease

Tay-Sachs disease, infantile form

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