mucopolysaccharidosis type 3D
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
MONDO:0018937
mucopolysaccharidosis type 3
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
GNS deficiency
exact
MPS III D
exact
MPS IIID
related
MPS3D
exact
MPSIIID
exact
Mucopoly-saccharidosis type 3D
related
N-acetylglucosamine-6-sulfate sulfatase deficiency
related
Sanfilippo D
exact
Sanfilippo syndrome D
exact
Sanfilippo syndrome type D
exact
glucosamine N-acetyl-6-sulfatase deficiency
exact
mucopolysaccharidosis type 3D
exact
mucopolysaccharidosis type IIID
exact
mucopolysaccharidosis, type IIID
related