Links to information about phenylketonuria (PKU), an inherited disorder that increases levels of an amino acid in the blood called phenylalanine.
Information about foetal diseases from leading Australian health organisations.
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.
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.
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.
Follow the links below to find out more about diethylstilboestrol (DES), a synthetic form of oestrogen.
Trusted information about birth defects from leading Australian health organisations, including links to content on spina bifida and amniocentesis.
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.
Long QT syndrome
Long QT syndrome (LQTS) is a disorder of the heart's electrical system that can cause fast, chaotic heartbeats, called arrhythmias.
This genetic disorder involves sensory, developmental and hormonal symptoms, but most girls and women with Turner syndrome enjoy a normal life.