ORPHA:61
Alpha-mannosidosis
Also called Lysosomal alpha-D-mannosidase deficiency
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:61 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Macroglossia
- Coarse facial features
- Hearing impairment
- Cataract
- Intellectual disability
- Global developmental delay