List of genetic disorders
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Most common
- P – Point mutation, or any insertion/deletion entirely inside one gene
- D – Deletion of a gene or genes
- Dup - Duplication of a gene or genes
- C – Whole chromosome extra, missing, or both
- T – Trinucleotide repeat disorders: gene is extended in length
| Disorder | Chromosome | Mutation |
| Angelman syndrome | 15q | DCP |
| Canavan disease | 17p | |
| Charcot–Marie–Tooth disease | 17p12 | Dup |
| Color blindness | X | P |
| Cri du chat syndrome | 5 | D |
| Cystic fibrosis | 7q | P |
| DiGeorge syndrome | 22q | D |
| Down syndrome | 21 | C |
| Duchenne muscular dystrophy | Xp | D |
| Familial hypercholesterolemia | 19 | P |
| Haemochromatosis type 1 | 6 | P |
| Hemophilia | X | P |
| Klinefelter syndrome | X | C |
| Neurofibromatosis | 17q/22q/? | |
| Phenylketonuria | 12q | P |
| Polycystic kidney disease | 16 or 4 | P |
| Prader–Willi syndrome | 15q | DCP |
| Scheuermann's disease | 1q21-q22 or 7q22 | |
| Sickle cell disease | 11p | P |
| Spinal muscular atrophy | 5q | DP |
| Tay–Sachs disease | 15q | P |
| Trisomy X | X | C |
| Turner syndrome | X | C |