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Search results for genetic disorder

  • Turner syndrome

    Turner syndrome is a genetic disorder that only affects females. It causes a wide range of symptoms and some distinctive characteristics.

  • Trimethylaminuria ('fish odour syndrome')

    Read more about trimethylaminuria which is an uncommon genetic disorder that causes a strong body odour, usually described as like rotting fish, poo or rubbish.

  • Tay-Sachs disease

    Tay-Sachs disease is a very rare and usually fatal genetic disorder that causes progressive damage to the nervous system.

  • Rett syndrome

    Read about Rett syndrome, a rare genetic disorder that affects brain development and causes severe physical and mental disability from early childhood.

  • Patau's syndrome

    Find out about Patau's syndrome, also known as trisomy 13, a serious genetic disorder where a baby has an extra copy of chromosome 13.

  • Noonan syndrome

    Read about Noonan syndrome, which is a genetic disorder that causes a wide range of features, such as heart abnormalities and unusual facial features.

  • Muscular dystrophy

    The muscular dystrophies (MD) are a group of inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability.

  • Gilbert's syndrome

    Read about Gilbert's syndrome, a genetic hereditary disorder where slightly higher than normal levels of bilirubin build up in the blood, causing jaundice.

  • Angelman syndrome

    Read about Angelman syndrome, a genetic disorder that affects the nervous system and causes severe physical and intellectual disability

  • Chorionic villus sampling - Why it's offered

    Chorionic villus sampling (CVS) is offered to pregnant women at risk of having a baby with a serious genetic disorder. It will diagnose any problems at an early stage.