RS529522213 CDH23;PSAP
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Associated Conditions
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
PSAP-related disorder
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
PSAP-related disorder
Other Variants in CDH23;PSAP