This inherited disorder of copper build-up can eventually cause heart, liver and brain problems.

The inherited disorder causes gradual deterioration of light-detecting cells at the back of the eye, leading to blindness.

Traditional gene hunts have relied on a technique called linkage analysis, in which scientists study families in which several members have developed an inherited disorder.

Although steatocystoma multiplex has historically been described as an autosomal dominant inherited disorder, most presenting cases are sporadic.

This rare inherited disorder affects muscles cells.