List of genetic disorders

List of genetic disorders

The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved.

*P - Point mutation, or any insertion/deletion entirely inside one gene
*D - Deletion of a gene or genes
*C - Whole chromosome extra, missing, or both - see chromosomal aberrations
*T - Trinucleotide repeat disorders - gene is extended in length

More common disorders

B

E

H

K

N

R

U

X

Y


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