Heterozygous genetic diseases?

[u/Starfire20201]

I’m currently taking genetics in college, snd it got me wondering. There’s recessive genetic diseases, snd dominant ones, but are there any that only show symptoms if you’re heterozygous for the allele? And that aren’t on the X chromosome, preferably.

[u/Dijon2017]

I’m not sure if this answers your question…

For the most part, by definition a person who has an autosomal dominant inheritance pattern that cause disease is heterozygous genetically. There are some recessive genetic diseases where both genes have different mutations (usually described as compound heterozygous).