Congenital adrenal hyperplasia
Congenital adrenal hyperplasia affects the hormones. People with the condition will have health problems, but might still enjoy a normal lifestyle.
Links to trusted information about phenylketonuria (PKU), an inherited disorder that increases levels of an amino acid in the blood called phenylalanine.
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.
Trusted information about fetal diseases from leading Australian health organisations, including links to fetal alcohol syndrome and fetal alcohol spectrum disorder.
Obstructive lung diseases
People with obstructive lung disease, such as COPD, asthma or CF, experience shortness of breath. Learn more about obstructive lung diseases.
This group of genetic conditions affects the nervous system, usually the hand and foot muscles first. It worsens, but some therapies are effective.
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.
Haemochromatosis causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.
Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.
Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.