COG8-CDG
ORPHA:95428· ICD-10 E77.8
Визначення(English summary)
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood