RS863223921 TWNK
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What This Variant Does
"CLNSIG=4
Associated Conditions
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Perrault syndrome
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Other Variants in TWNK