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 +0  (nbme20#11)

HS is autosomal dominant, but exhibits incomplete penetrance. So he had no record of personal family, but still likely heterzygous.

(Wikipedia) The clinical severity of HS varies from symptom-free carrier to severe hemolysis because the disorder exhibits incomplete penetrance in its expression.

ibestalkinyo  This is what threw me off; I figured with 2 unaffected parents, it's more likely he had an autosomal recessive mutation.




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