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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024