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Genetic disorders

Full list
Sortable tableDisorder name Mutation type Chromosome1p36 deletion syndrome D 1p3618p deletion syndrome D 18p21-hydroxylase deficiency 6p21.345,Xsee Turner syndrome C X47,XX,+21see Down syndrome C 214 ...
2014-3-14 21:20
More common disorders
Disorder Mutation Chromosome22q11.2 deletion syndrome D 22qAngelman syndrome DCP 15Canavan disease 17pCharcot–Marie–Tooth disease Color blindness P XCri du chat D 5Cystic fibrosis P 7qDown syndrom ...
2014-3-14 21:19
List of genetic disorders
The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition ...
2014-3-14 21:18

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