Mucopolysaccharidosis type 3D

MONDO:0009658

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.

Also known as: GNS deficiency, MPS III D, MPS3D, MPSIIID, Sanfilippo D, Sanfilippo syndrome D, Sanfilippo syndrome type D, glucosamine N-acetyl-6-sulfatase deficiency

3 clinical trials for this condition and its sub-types, 0 tagged with Mucopolysaccharidosis type 3D itself.

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↑ Lysosomal storage disease with skeletal involvement (63) ↑ Mucopolysaccharidosis type 3 (18)

Including sub-types (3) Tagged with Mucopolysaccharidosis type 3D (0)

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