List of genetic disorders

The following code indicates the type of mutation; the following number (or X or Y) indicates the chromosome involved.
  • P - Point mutation, or any insertion/deletion entirely inside one gene.
  • D - Deletion of a gene or genes.
  • C - Whole chromosome extra, missing, or both.

Cystic fibrosisP
Angelman syndromeDCP 15
Prader-Willi syndromeDC 15
color blindnessP X
haemophiliaP X
Canavan disease
Joubert syndrome
Neurofibromatosis
Pelizaeus-Merzbacher disease
phenylketonuriaP
Tay-Sachs diseaseP
Down syndromeC 21
Klinefelter syndromeC X
Turner syndromeC X

Note: unspecified information in the above means either that the information is currently not known, or more likely that no-one in Wikipedia has gotten around to entering it.


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