lethal congenital contracture syndrome 4

Summary
Definition
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
Super Class
lethal congenital contracture syndrome
Disease Ontology
DOID:0060654
Mondo Disease Ontology
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4604 MYBPC1 myosin binding protein C1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q00872 Myosin-binding protein C, slow-type

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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: April 7, 2025