Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Congenital factor VII deficiency is a rare, autosomal recessive disorder with an estimated prevalence of 1 in 1,000,000. We ...

Cystic fibrosis (CF) is a rare autosomal recessive disorder that affects numerous systems of the body. It is a complicated disease that differs from person to person. An autosomal recessive disorder ...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder primarily caused by mutations in the SACS gene, which encodes the multifunctional protein sacsin.

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance ...