Rare Disease Library

Hurler-Scheie syndrome

MPS1H/S · MPSIH/S

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

Hurler syndrome

Hurler disease · MPS1H

Hyaluronidase deficiency

MPS9 · MPSIX

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Mucopolysaccharidosis type 3

MPS3 · MPSIII

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Scheie syndrome

MPS1S · MPSIS