Genetic landscape of XLID
In the past, it was estimated that a proportion of 20-25% of intellectual disability could be accredited to X-linked intellectual disability, but in the more recent years these numbers have changed pointing towards a 10-15%. However, the overall contribution of XLID will be truly determined when the causative mutations of a considerable amount of intellectual disability cases will be identified. The genetic landscape of XLID shows a vast number of rare, as well as unique single nucleotide mutations, which is also supported by the numbers of families having mutations in non-syndromic XLID genes. …show more content…
Structural abnormalities, such as facial clefting, cardiac and genitourinary malformations as well as hydrocephalus are the most common abnormalities that will probably require surgical intervention. Malformations of the central nervous system are another category of the XLID