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List of genetic disorders
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List of genetic disorders

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
Pelizaeus-Merzbacher disease
phenylketonuria P
Prader-Willi syndrome DC 15
Spina bifida P 1
Tay-Sachs disease P
Turner syndrome C X