Conditions / Genetic

mucopolysaccharidosis type IIID

info · Genetic · ICD-10: E76.22

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.

Signs and symptoms

  • Facial hirsutism
  • Hypertelorism
  • Macroglossia
  • Global developmental delay
  • Sleep disturbance
  • Macrocephaly
  • Heparan sulfate excretion in urine
  • Delayed speech and language development
  • Frontal bossing
  • Coarse facial features

Also known as: GNS deficiency; MPS IIID; MPS3D; Mucopolysaccharidosis type 3D; N-acetylglucosamine-6-sulfatase deficiency