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Ontology Browser

Term:
spastic ataxia 8 (DOID:0080252)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
spastic ataxia +     
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Charlevoix-Saguenay spastic ataxia  
spastic ataxia 1  
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 7 
spastic ataxia 8  
An autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. (OMIM)

Synonyms
Exact Synonyms: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY ;   SPAX8
Primary IDs: OMIM:617560
Alternate IDs: RDO:9001771

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.