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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
Disease Ontology
DOID:11725
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
25836 NIPBL NIPBL cohesin loading factor
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6KC79 Nipped-B-like protein
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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 4, 2025