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cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.
Uniprot Description A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation.
Mondo Term and Equivalent IDs
MONDO:0014104:  cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
UMLS:C3808977: