Congenital adrenal hyperplasia
Congenital adrenal hyperplasia affects the hormones. People with the condition will have health problems, but might still enjoy a normal lifestyle.
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Phenylketonuria
Links to trusted information about phenylketonuria (PKU), an inherited disorder that increases levels of an amino acid in the blood called phenylalanine.
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Genetics of dementia
There isn't a single gene that is responsible for most types of dementia. However, some rare types of dementia can be inherited.
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Fetal diseases
Trusted information about fetal diseases from leading Australian health organisations, including links to fetal alcohol syndrome and fetal alcohol spectrum disorder.
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Obstructive lung diseases
People with obstructive lung disease, such as COPD, asthma or CF, experience shortness of breath. Learn more about obstructive lung diseases.
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Charcot-Marie-Tooth disease
This group of genetic conditions affects the nervous system, usually the hand and foot muscles first. It worsens, but some therapies are effective.
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Cystic fibrosis (CF)
Cystic fibrosis is a disease affecting the lungs and digestive system. Learn more about cystic fibrosis (CF), including its symptoms, treatment options and how it's diagnosed.
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Haemochromatosis
Haemochromatosis causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.
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Noonan syndrome
Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.
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Williams syndrome
Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.
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