Rare Disease Library

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Childhood-onset basal ganglia degeneration syndrome

Lenk-Ploski syndrome

Childhood-onset epilepsy syndrome

Childhood-onset Steinert myotonic dystrophy

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

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

Primary dystonia, DYT6 type

DYT6 · Generalized cervical and upper-limb-onset dystonia