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Mucolipidosis type III gamma

Disease definition

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


Classification level: Subtype of disorder
  • Synonym(s):
    • ML 3 gamma
    • ML III gamma
    • Mucolipidosis type 3 gamma
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E77.0
  • OMIM: 252605
  • UMLS: C1854896
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


Additional information

Further information on this disease

Specialised Social Services

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