You are using an outdated browser. Please upgrade your browser to improve your experience.

spastic ataxia 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.
Uniprot Description An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance.
Mondo Term and Equivalent IDs
MONDO:0007164:  spastic ataxia 1
MESH:C566993: 
Orphanet:251282: 
UMLS:C1970107: