Cystic Fibrosis is caused by mutations in the CFTR, that causes dysfunctions in chloride channels. Fairly common in Northern Europe (carrier frequency 1:25).

medicalzebras.com/biochemicalD...

Congenital insensitivity to pain is a genetic disease, most often inherited in a autosomal recessive manner. It can have devastating consequences, especially when gone unnoticed.
#painlessness #raredisease #genetics #medicalfacts #interestingfacta

Facial blindness is an underreported condition, sometimes even misdiagnosed as autism. Do you are anyone you know have it? #facialblindness #medicalfacts #interestingfacts
#rarecondition

There are about 19 rapported cases worldwide of endometriosis in men. The theory is that it only happens in men with müllerian remnants that have been exposed to high levels of estrogen.

Check out my website for more information:
medicalzebras.com/blog.html

Alpha-1-antitrypsin

medicalzebras.com/biochemicalD...