RS144001072 TWNK

Health Risk Chr 10:100990885
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Associated Conditions
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia
TWNK-related disorder
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 3
Other Variants in TWNK
rs2493633263 rs111033572 rs111033573 rs111033574 rs111033575 rs111033576 rs111033577 rs28937887 rs111033579 rs80356543
Ask Dr. Hemsworth about this variant