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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 Mutation or gene Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease ASPA 17p
Coeliac disease DQ2.5 6
Charcot–Marie–Tooth disease MFN2 17
Color blindness P X
Cri du chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Haemochromatosis P 6
Haemophilia P X
Joubert syndrome 21 different loci
Klinefelter syndrome C X
Neurofibromatosis NF1/NF2 17q/22q/?
Phenylketonuria P 12q
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)
Prader–Willi syndrome DC 15
Sickle-cell disease P 11p
Tay–Sachs disease P 15
β-Thalassaemia HBB 11
Turner syndrome C X


  1. See "Who is affected by cleft lip and cleft palate". Retrieved 2008-06-20.
  2. Beaty T.H. et al (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