X-linked intellectual disability

X-linked intellectual disability
Classification and external resources
MeSH	D038901
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X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.

As with most X-linked disorders, males are more heavily affected than females. 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. It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified.

X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males.

Several X-linked syndromes include intellectual disability as part of the presentation. These include Coffin–Lowry syndrome, MASA syndrome, X-linked alpha thalassemia mental retardation syndrome, and mental retardation and microcephaly with pontine and cerebellar hypoplasia.

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.

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