Rare Disease Library

Mucolipidosis type III gamma

ML 3 gamma · ML III gamma

GM1 gangliosidosis type 3

Adult-onset GM1 gangliosidosis

Mucolipidosis

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Mucolipidosis type III

Pseudo-Hurler polydystrophy

Mucolipidosis type III alpha/beta

ML 3 alpha/beta · ML III alpha/beta

Mucolipidosis type IV

Mucopolysaccharidosis type 3

MPS3 · MPSIII

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type C

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

Sanfilippo syndrome type D

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