Rare Disease Library

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Metachromatic leukodystrophy, adult form

Arylsulfatase A deficiency, adult form · MLD, adult form

Ocular cystinosis

Adult-onset cystinosis · Non-nephropathic cystinosis

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

Primary megaureter, adult-onset form

PUM1-related cerebellar ataxia

Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN