Cenani-Lenz syndactyly syndrome

Summary
Synonym
  • syndactyly type 7
Definition
A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
Super Class
dysostosis
Disease Ontology
DOID:0090015
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4038 LRP4 LDL receptor related protein 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
228357 Lrp4 low density lipoprotein receptor-related protein 4

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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