List of genetic disorders

The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of mutation and the chromosome involved.

Common disorders
Legend:


 * 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

Y
Lista de enfermedades genéticas Liste des maladies génétiques à gène identifié Genetikai betegségek listája Lijst van erfelijke aandoeningen