ORPHA:585
Multiple sulfatase deficiency
Also called Austin disease, MSD, Mucosulfatidosis
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Worldwide)
- Rarity class
- 1-9 / 1 000 000
ORPHA:585 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Visual impairment
- Intellectual disability
- Global developmental delay
- Neonatal hypotonia
- Splenomegaly
- Hepatomegaly