Aspartylglucosaminuria
ORPHA:93· ICD-10 E77.1
Definition
A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood