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