ORPHA:118
Beta-mannosidosis
Also called Beta-mannosidase deficiency
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:118 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Hearing impairment
- Intellectual disability
- Seizure
- Abnormal facial shape
- Recurrent respiratory infections
- Hypoplasia of the abdominal wall musculature