Rare Disease Library

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy · Alpers syndrome

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Genetic neurodegenerative disease with dementia

Neurodegenerative disease with chorea