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Search results for genetic disorder

  • 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.

  • 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

  • Acute myeloid leukaemia - Causes

    Read about what causes acute myeloid leukaemia (AML), plus risk factors, such as previous cancer treatment, smoking, and having certain blood or genetic disorders.

  • Childhood cataracts - Causes

    Read about the possible causes of childhood cataracts, which include genes and genetic conditions and infections during pregnancy, such as rubella, chickenpox and toxoplasmosis.

  • Metabolic syndrome

    Find out about metabolic syndrome, what it is, how it's diagnosed and how to prevent and treat it.

  • Hereditary haemorrhagic telangiectasia (HHT)

    Read information on hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), including symptoms, causes and how it's treated.