List of genetic disorders

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

Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.

There are over 6,000 known genetic disorders in humans.

1:8,000 females 1:40,000 males (hemophilia B) autosomal dominant, autosomal recessive or X-linked recessive 1:150,000 (type C) [33] [34]

Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities . It shows dark and white regions as seen on G banding . Each row is vertically aligned at centromere level. It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes , as well as the mitochondrial genome (at bottom left).
Further information: Karyotype
Duchenne muscular dystrophy
Craniosynostosis can be found in several disorders, like Carpenter Syndrome