Rare Disease Library

Lethal infantile mitochondrial myopathy

LIMM · LIMD

FASTKD2-related infantile mitochondrial encephalomyopathy

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatal mitochondrial disease due to COXPD3

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

Glycogen storage disease due to acid maltase deficiency, infantile onset

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

Mitochondrial disease

Mitochondrial disease with epilepsy

OBSOLETE: Mitochondrial disease with eye involvement

Severe Canavan disease

Infantile Canavan disease · Neonatal Canavan disease