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

Y
Lista de enfermedades genéticas Liste des maladies génétiques à gène identifié Genetikai betegségek listája Lijst van erfelijke aandoeningen 遺伝子疾患の一覧 Список наследственных заболеваний