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Mucolipidosis type IV

Disease definition

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E75.1
  • OMIM: 252650
  • UMLS: C0238286
  • MeSH: -
  • GARD: 94
  • MedDRA: -

Detailed information


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