Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, attenuated form
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.
Also known as Hunter syndrome type B, iduronate 2-sulfatase deficiency type B, MPS2B, MPSIIB, mucopolysaccharidosis type 2, attenuated form, mucopolysaccharidosis type 2B, mucopolysaccharidosis type II, attenuated form, mucopolysaccharidosis type IIB — per MONDO