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Turner's syndrome is a random genetic disorder that affects females, causing short stature and infertility.

PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods.

The earlier that hearing loss is identified in children, the better for the child?s language, learning and overall development.

Amniocentesis is a prenatal procedure performed on a pregnant woman to withdraw a small amount of amniotic fluid from the sac surrounding the fetus.

When a person has cystic fibrosis, their mucus glands secrete very thick sticky mucus that clogs the tiny air passages in the lungs and traps bacteria.

Information and links to factsheets about urinary tract infections, kidney conditions, bladder problems, management and treatments.

Kabuki syndrome affects males and females equally and there is no cure.

Genetic services can help people who are affected by, or who are at risk of, inherited conditions or birth defects, to make informed choices about their healthcare.

In Wilson's disease, a build-up of copper damages organs including the liver, nervous system, brain, kidneys and eyes.

Some children acquire a heart problem after an illness in childhood, and this is called an acquired heart defect.