Rare Genetic Disorders

Genetic disorders occur when a mutation affects the genes. Carrying the mutation doesn’t always mean you’ll end up with a disease. There are many types, including single-gene, multifactorial and chromosomal disorders.

Genetic disorders may also cause rare diseases. This group of conditions affects smaller than 200,000 people in the U.S. According to experts, there may be as many as 7,000 of these diseases.

Rare genetic disorders include:

    Related Conference of Rare Genetic Disorders

    May 18-19, 2026

    15th World Congress on Rare Diseases and Orphan Drugs

    Prague, Czech Republic
    June 29-30, 2026

    7th Global Experts Meeting on Infectious Diseases

    Singapore City, Singapore
    August 25-26, 2026

    18th Global Conference on Nephrology and Infectious Diseases

    Amsterdam, Netherlands

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