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distal arthrogryposis type 9
Genetics:
- associated with defects in FBN2
Clinical manifestations:
- contractures
- arachnodactyly
- scoliosis
- crumpled ears
- absence of a primary neurologic disease or myopathy
General
arthrogryposis multiplex congenita (distal arthrogryposis)
Database Correlations
OMIM 121050
References
OMIM :accession 121050