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 ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

CARASIL, or cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy is a rare genetic disorder following the autosomal recessive inheritance pattern. Maeda et al.

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

Cockayne syndrome is a rare genetic disorder caused by changes in the ERCC8 or ERCC6 genes. People with the disorder have many health issues, such as premature aging, that shorten a person’s life ...