Х-зчеплена розумова відсталість, тип Вільсона
ORPHA:85290· ICD-10 Q87.8· X-linked intellectual disability, Wilson type
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked dominant, X-linked recessive
- Вік початку
- Childhood