ORPHA:93400
Congenital sialidosis type 2
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:93400 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Coarse facial features
- Hearing impairment
- Low-set ears
- Cataract
- Dysostosis multiplex
- Edema