X-linked intellectual disability, Wilson type
ORPHA:85290· ICD-10 Q87.8
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Childhood