Mucopolysaccharidosis type II with neurological involvement

Also known as: Hunter syndrome

X-linked lysosomal storage disease.

Medical specialty: Neurology
Subspecialty: Neurology / Metabolic disease
Sex & age distribution: Male: affected, nearly all; Female: carriers rarely affected; Children: yes, early childhood
Gene(s) involved: IDS

Etiology & mechanism

IDS mutation.

Gene(s) involved (1)

IDS

Symptoms & signs (4)

coarse featurescognitive declinehearing losshepatosplenomegaly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.