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List of genetic disorders

List of genetic disorders

The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

Most common

  • P – Point mutation, or any insertion/deletion entirely inside one gene
  • D – Deletion of a gene or genes
  • Dup - Duplication of a gene or genes
  • C – Whole chromosome extra, missing, or both (see chromosome abnormality)
  • T – Trinucleotide repeat disorders: gene is extended in length

Full genetic disorders list


Further reading

  • "Specific Genetic Disorders". National Human Genome Research Institute (NHGRI). Retrieved 15 November 2017.
  • "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 15 November 2017.
  • "Color Vision deficiency | Genetics Home Reference".

Text submitted to CC-BY-SA license. Source: List of genetic disorders by Wikipedia (Historical)