X-linked intellectual disability, Wilson type

What is X-linked intellectual disability, Wilson type?

X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.

Inheritance type

X-linked dominant, X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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