Summary Literature (0)

DOID:0050886 - Troyer syndrome

Disease Ontology Definition: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: SPG20, autosomal recessive spastic paraplegia 20, autosomal recessive spastic paraplegia Troyer type, autosomal recessive spastic paraplegia type 20, childhood-onset spastic paraparesis with distal muscle wasting, hereditary spastic paraplegia 20, spastic paraplegia 20 (Troyer syndrome), spastic paraplegia type 20,

Echinobase Genes : spart


OMIM:

MIM:275900 - spastic paraplegia 20, autosomal recessive; spg20

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee