DISEASES

Disease-gene associations mined from literature

Human genes for Troyer syndrome

Troyer syndrome [DOID:0050886]

A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.

Synonyms:  Troyer syndrome,  DOID:0050886,  Troyer disease,  Troyer disorder,  Troyer syndromes ...