List of genetic disorders Guide, Meaning , Facts, Information and Description
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
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