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X-linked intellectual disability

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X-linked intellectual disability

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. 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. 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.

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:

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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