The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of mutation and the chromosome involved.

Disorder	Mutation	Chromosome
Angelman syndrome	DCP	15
Canavan disease
Charcot-Marie-Tooth disease
color blindness	P	X
Cystic fibrosis	P
Down syndrome	C	21
haemophilia	P	X
Joubert syndrome
Klinefelter syndrome	C	X
Neurofibromatosis
Pelizaeus-Merzbacher disease
phenylketonuria	P
Prader-Willi syndrome	DC	15
Spina bifida	P	1
Tay-Sachs disease	P
Turner syndrome	C	X

Legend:

• 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