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 ...
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 ...
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 ...
