Rare Disease Library

Ocular cystinosis

Adult-onset cystinosis · Non-nephropathic cystinosis

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Cystinosis

Protein defect of cystin transport

GM1 gangliosidosis type 3

Adult-onset GM1 gangliosidosis

Overlap myositis

Non-specific myositis · Adult-onset overlap myositis

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

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