Conditions / Genetic

mucolipidosis III alpha/beta

info · Genetic

A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.

Signs and symptoms

  • Limitation of joint mobility
  • Trigonocephaly
  • Claw hand deformity
  • Severely reduced left ventricular ejection fraction
  • Thick vermilion border
  • Hyperlordosis
  • Microcephaly
  • C1-C2 subluxation
  • Global developmental delay
  • Knee flexion contracture

Also known as: mucolipidosis III; pseudo-Hurler polydystrophy