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CHST3-related skeletal dysplasia

Orpha number ORPHA263463
Synonym(s) Autosomal recessive Larsen syndrome
Chondrodysplasia with congenital joint dislocations, CHST3 type
SDCD, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q74.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.


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Detailed information

Clinical genetics review
  • EN (2011)
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