Mucopolysaccharidosis Type IIID (GNS)

Mucopolysaccharidosis type IIID, also known as Sanfilippo syndrome type D, is a pan-ethnic, autosomal recessive disease caused by pathogenic variants in the gene GNS. This disease is characterized by severe behavioral disturbances, including hyperactivity, sleep disturbances and destructive behavior. The age of onset is usually around 3 to 4 years of age. Other features include intellectual disability, enlarged liver and spleen, stiffness of the joints, hearing loss and seizures. No treatment is known. Patients are likely to survive into adulthood. No clear genotype-phenotype correlation is known.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Mucopolysaccharidosis, Type IIIDGNS1, 3, 7-13 [14] (*19)ARWorldwide< 1 in 50076%0.000480769230769231