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X-linked intellectual disability – Abstract
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.
X-linked intellectual disability – Syndromes
Several X-linked syndromes include intellectual disability as part of the presentation. These include:
- Coffin–Lowry syndrome
- MASA syndrome
- MECP2 duplication syndrome
- X-linked alpha thalassemia mental retardation syndrome
- mental retardation and microcephaly with pontine and cerebellar hypoplasia