Cornelia de Lange syndrome

Summary
Synonym
  • Brachmann de Lange syndrome
  • De Lange syndrome
Definition
A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Super Class
monogenic disease syndrome
External Links
Disease Ontology
DOID:11725
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 36 in total
Gene ID Gene Symbol Description Source
1634 DCN decorin
2131 EXT1 exostosin glycosyltransferase 1
2348 FOLR1 folate receptor alpha
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2653 GCSH glycine cleavage system protein H
2720 GLB1 galactosidase beta 1
2731 GLDC glycine decarboxylase
2821 GPI glucose-6-phosphate isomerase
3339 HSPG2 heparan sulfate proteoglycan 2
4968 OGG1 8-oxoguanine DNA glycosylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
32627 SMC3 Structural maintenance of chromosomes 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
853371 SMC3 cohesin subunit SMC3

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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: August 19, 2024