Phenylketonuria
Links to information about phenylketonuria (PKU), an inherited disorder that increases levels of an amino acid in the blood called phenylalanine.
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Fetal diseases
Information about foetal diseases from leading Australian health organisations.
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Genetic disorders
Browse our index of articles on genetic disorders to learn about a specific condition. Information includes signs and symptoms of the condition, how it is diagnosed and where to go for support.
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Edwards syndrome (Trisomy 18)
Edwards syndrome, also called Trisomy 18, is a genetic disorder in babies that causes severe disability. It is caused by an extra copy of chromosome 18.
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Birth defects
Birth defects are quite common. Some are minor and cause little, if any, long term problems. Other birth defects can be life threatening or cause significant disability.
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Long QT syndrome
Long QT syndrome (LQTS) is a disorder of the heart's electrical system that can cause fast, chaotic heartbeats, called arrhythmias.
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Cystic fibrosis (CF)
Cystic fibrosis (CF) is a disease affecting the lungs and digestive system. Treatments can improve the quality of life for people living with CF.
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Turner syndrome
This genetic disorder involves sensory, developmental and hormonal symptoms, but most girls and women with Turner syndrome enjoy a normal life.
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Tourette syndrome
People with this syndrome make involuntary repetitive sounds and movements. Most don't need treatment, and relaxation exercises may reduce symptoms.
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Down syndrome
This syndrome causes learning difficulties, with a greater chance of health problems. Everyone is affected differently.
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