ORPHA:93399
Juvenile sialidosis type 2
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:93399 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Coarse facial features
- Dysostosis multiplex
- Global developmental delay
- Visceromegaly
- Hearing impairment
- Cataract