Rare Disease Library

MEPAN syndrome

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

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

COASY protein-associated neurodegeneration

CoPAN · NBIA6

Infantile neuroaxonal dystrophy

INAD · INAD1

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

PLA2G6-associated neurodegeneration

PLAN