RS730882199 CYP27A1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Regression of motor development with severe dystonia and corresponding basal ganglia lesions
Cholestanol storage disease
Cardiovascular phenotype
Regression of motor development with severe dystonia and corresponding basal ganglia lesions
Cholestanol storage disease
Cardiovascular phenotype
Other Variants in CYP27A1