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Mucolipidosis type III alpha/beta

Disease definition

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

ORPHA:423461

Classification level: Subtype of disorder
  • Synonym(s):
    • ML 3 alpha/beta
    • ML III alpha/beta
    • Mucolipidosis type 3 alpha/beta
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E77.0
  • OMIM: 252600
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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