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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 Neonatal/infancy
ICD-10
  • Q68.1
OMIM
UMLS -
MeSH -
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.


Last update: August 2007

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