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Sanfilippo syndrome type C
ORPHA:79271
Classification level: Subtype of disorder- Synonym(s):
- HGSNAT deficiency
- Heparan-alpha-glucosaminide N-acetyltransferase deficiency
- MPS3C
- MPSIIIC
- Mucopolysaccharidosis type 3C
- Mucopolysaccharidosis type IIIC
- Prevalence: 1-9 / 100 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E76.2
- OMIM: 252930
- UMLS: C0086649
- MeSH: -
- GARD: 7073
- MedDRA: -
Summary
This disease is described under Mucopolysaccharidosis type 3
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Czech (2015)
- English (2015)
- Italiano (2015)
- Clinical practice guidelines
- Français (2016)
- Clinical genetics review
- English (2019)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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