Mucopolysaccharidosis type 2, attenuated form
ORPHA:217093· ICD-10 E76.1
Definition
Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Childhood