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autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR23 patients manifest epilepsy, intellectual disability, and gait ataxia.
Mondo Term and Equivalent IDs
MONDO:0014846:  autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency
DOID:0111613: 
Orphanet:404493: 
UMLS:C4310780: