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List of genetic disorders

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This is a list of the most common genetic disorders in humans. If known, the type of mutation is shown, and the chromosome involved.

Many other conditions are known to be partly or wholly inherited, but their genetic basis is not yet clear. A good example is "clefting" (cleft lip and palate), which occurs up to 4 per 1000 in Native Americans and some Asian populations, but which is almost unknown in African populations.[1] About 20 genes are under investigation.[2][3]

Most common disorders

Disorder Chromosome Mutation
Angelman syndrome 15 b DCP
Canavan disease 17p
Charcot–Marie–Tooth disease 17
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
Haemophilia / Hemophilia X P
Klinefelter syndrome X C
Neurofibromatosis 17q/22q/?
Phenylketonuria 12q P
Polycystic kidney disease 16 (PKD1) or 4 (PKD2) P
Prader–Willi syndrome 15 DCP
Sickle cell disease 11p P
Spinal muscular atrophy 5q DP
Tay–Sachs disease 15 P
Turner syndrome X C


  1. See "Who is affected by cleft lip and cleft palate". Retrieved 2008-06-20. 
  2. Beaty T.H. (2011). "Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate". Genet Epidemiol 35 (6): 469–78. doi:10.1002/gepi.20595 . PMC 3180858 . PMID 21618603 . 
  3. FaceBase. (2012). Gene Wiki. Retrieved from Archived 2012-08-15 at the Wayback Machine.