Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:423461

Mucolipidosis type III alpha/beta

Also called ML 3 alpha/beta, ML III alpha/beta, Mucolipidosis type 3 alpha/beta

Body system
Bone diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Adolescent, Adult, Childhood, Infancy, Neonatal
Estimated prevalence
1-5 / 10 000 (Worldwide)
Rarity class
1-5 / 10 000

ORPHA:423461 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Joint stiffness
  • Short stature
  • Postnatal growth retardation
  • Oligosacchariduria
  • Gingival overgrowth
  • Coarse facial features