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Arthrogryposis-like hand anomaly - sensorineural deafness

Orpha number ORPHA1144
Synonym(s) Distal arthrogryposis type 6
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q68.1
ICD-O -
OMIM
UMLS
  • C1862471
MeSH
  • C535386
MedDRA -
SNOMED CT -

Summary

This syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.


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