RS111033574 TWNK
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What This Variant Does
"[OMIM:?]
Associated Conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Infantile onset spinocerebellar ataxia
Perrault syndrome 5
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Infantile onset spinocerebellar ataxia
Perrault syndrome 5
Sensory ataxic neuropathy
dysarthria
Other Variants in TWNK