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 fibrosis	P
Angelman syndrome	DCP 15
Prader-Willi syndrome	DC 15
color blindness	P X
haemophilia	P X
Canavan disease
Joubert syndrome
Neurofibromatosis
Pelizaeus-Merzbacher disease
phenylketonuria	P
Tay-Sachs disease	P
Down syndrome	C 21
Klinefelter syndrome[?]	C X
Turner syndrome	C 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.