Rare Disease Library

Infantile neuroaxonal dystrophy

INAD · INAD1

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

COASY protein-associated neurodegeneration

CoPAN · NBIA6

Fatty acid hydroxylase-associated neurodegeneration

FAHN

MEPAN syndrome

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

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

PLA2G6-associated neurodegeneration

PLAN