ORPHA:309324
Free sialic acid storage disease, infantile form
Also called ISSD
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Sweden)
- Rarity class
- 1-9 / 1 000 000
ORPHA:309324 is classified under "Bone diseases" in the Orphanet nomenclature.