distal arthrogryposis type 2B

Summary
Synonym
  • DA2B
  • Freeman-Sheldon syndrome variant
  • Sheldon-Hall syndrome
Definition
A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Super Class
distal arthrogryposis
Disease Ontology
DOID:0111599
MeSH
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
17883 Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024