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X-linked intellectual disability, Wilson type

Disease definition

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.

ORPHA:85290

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive or X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • ICD-11: LD90
  • OMIM: 309545
  • UMLS: C4305028
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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