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spinocerebellar ataxia type 26

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
Uniprot Description A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.
Disease Ontology Description An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.
Mondo Term and Equivalent IDs
MONDO:0012246:  spinocerebellar ataxia type 26
GARD:0009995: 
MESH:C537203: 
Orphanet:101112: 
SCTID:718769009: 
UMLS:C1836395: