ORPHA:79271

Sanfilippo syndrome type C

Also called HGSNAT deficiency, Heparan-alpha-glucosaminide N-acetyltransferase deficiency, MPS3C, MPSIIIC, Mucopolysaccharidosis type 3C, Mucopolysaccharidosis type IIIC

Body system

Bone diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Childhood

Estimated prevalence

1-9 / 1 000 000 (Netherlands)

Rarity class

1-9 / 1 000 000

ORPHA:79271 is classified under "Bone diseases" in the Orphanet nomenclature.