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spinocerebellar ataxia-dysmorphism syndrome

Disease Summary
Associated Targets ()

Mondo Description Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0010062:  spinocerebellar ataxia-dysmorphism syndrome
GARD:0004958: 
MESH:C564802: 
Orphanet:1185: 
UMLS:C1849088: