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Smith-McCort dysplasia 1

Summary
Definition
A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
Super Class
Smith-McCort dysplasia
Disease Ontology
DOID:0081270
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54808 DYM dymeclin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q7RTS9 Dymeclin
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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

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Last updated: April 6, 2026