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  2. Ataxia, intention tremor, and hypotonia syndrome

Ataxia, intention tremor, and hypotonia syndrome

Definition:

Ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a childhood-onset ataxia syndrome. It has been suggested that heterozygous, loss-of-function variants in POU4F1 cause this disease. POU4F1 is expressed in the developing nervous system.

Biomedical Dictionary

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