Rare Disease Library

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

Hyaluronidase deficiency

MPS9 · MPSIX

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 3

MPS3 · MPSIII

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency