X-linked intellectual disability | |
---|---|
Other names | X-linked mental retardation |
Specialty | Neurology, medical genetics ![]() |
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
As with most X-linked disorders, males are more heavily affected than females. [1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. [2] [3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. [4] Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition. [5] [6]
X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males. [7]
Several X-linked syndromes include intellectual disability as part of the presentation. These include:
Following is a list of genes located on the X chromosome and linked to intellectual disability. There are also several loci that have not been associated with a specific gene.