RS549767223 TWNK
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Associated Conditions
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
TWNK-related disorder
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Other Variants in TWNK